chr4:54727416:AAACCCATGTATGAAGTACAGTGGAAGGTT> Detail (hg38) (KIT)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr4:55,593,582-55,593,611
hg38	chr4:54,727,416-54,727,445

HGVS

KIT

Type	Transcript	Protein
RefSeq	NM_000222.2:c.1648_1677delAAACCCATGTATGAAGTACAGTGGAAGGTT	NP_000213.1:p.Lys550_Val559del
	NM_001093772.1:c.1639_1668delAAACCCATGTATGAAGTACAGTGGAAGGTT	NP_001087241.1:p.Lys547_Val556del
Ensemble	ENST00000689994.1:c.1138_1167delAAACCCATGTATGAAGTACAGTGGAAGGTT	ENST00000689994.1:p.Lys380_Val389del
	ENST00000690543.1:c.1639_1668delAAACCCATGTATGAAGTACAGTGGAAGGTT	ENST00000690543.1:p.Lys547_Val556del
	ENST00000692783.1:c.1648_1677delAAACCCATGTATGAAGTACAGTGGAAGGTT	ENST00000692783.1:p.Lys550_Val559del
	ENST00000288135.6:c.1648_1677delAAACCCATGTATGAAGTACAGTGGAAGGTT	ENST00000288135.6:p.Lys550_Val559del
	ENST00000412167.7:c.1639_1668delAAACCCATGTATGAAGTACAGTGGAAGGTT	ENST00000412167.7:p.Lys547_Val556del
	ENST00000686011.1:c.1636_1665delAAACCCATGTATGAAGTACAGTGGAAGGTT	ENST00000686011.1:p.Lys546_Val555del
	ENST00000687109.1:c.1651_1680delAAACCCATGTATGAAGTACAGTGGAAGGTT	ENST00000687109.1:p.Lys551_Val560del
	ENST00000687246.1:c.1636_1665delAAACCCATGTATGAAGTACAGTGGAAGGTT	ENST00000687246.1:p.Lys546_Val555del
	ENST00000687295.1:c.1636_1665delAAACCCATGTATGAAGTACAGTGGAAGGTT	ENST00000687295.1:p.Lys546_Val555del
	ENST00000689832.1:c.1651_1680delAAACCCATGTATGAAGTACAGTGGAAGGTT	ENST00000689832.1:p.Lys551_Val560del

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

KIT

Type	Database	ID	Link
Gene	MIM	164920	OMIM
	HGNC	6342	HGNC
	Ensembl	ENSG00000157404	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM1159	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
gastrointestinal stromal tumor	Sunitinib	C	Predictive	Does Not Support	Resistance	Somatic	2	18955458	Detail

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
Patient 78 from a larger cohort of genotyped patients (n= 78) with imatinib resistant or intolerant ...	CIViC Evidence	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
Genome: hg38
Position: chr4:54,727,416-54,727,445
Variant Type: snv
Reference Allele: AAACCCATGTATGAAGTACAGTGGAAGGTT
Alternative Allele: -
Variant (CIViC) (CIViC Variant): K550_K559DEL
Transcript 1 (CIViC Variant): ENST00000288135.5
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/2696

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