chr4:54727418:ACCCATGTATGAAGTACAGTGGAA> Detail (hg38) (KIT)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr4:55,593,584-55,593,607
hg38	chr4:54,727,418-54,727,441

HGVS

KIT

Type	Transcript	Protein
RefSeq	NM_000222.2:c.1650_1673delACCCATGTATGAAGTACAGTGGAA	NP_000213.1:p.Pro551_Lys558del
	NM_001093772.1:c.1641_1664delACCCATGTATGAAGTACAGTGGAA	NP_001087241.1:p.Pro548_Lys555del
Ensemble	ENST00000288135.6:c.1650_1673delACCCATGTATGAAGTACAGTGGAA	ENST00000288135.6:p.Pro551_Lys558del
	ENST00000412167.7:c.1641_1664delACCCATGTATGAAGTACAGTGGAA	ENST00000412167.7:p.Pro548_Lys555del
	ENST00000686011.1:c.1638_1661delACCCATGTATGAAGTACAGTGGAA	ENST00000686011.1:p.Pro547_Lys554del
	ENST00000687109.1:c.1653_1676delACCCATGTATGAAGTACAGTGGAA	ENST00000687109.1:p.Pro552_Lys559del
	ENST00000687246.1:c.1638_1661delACCCATGTATGAAGTACAGTGGAA	ENST00000687246.1:p.Pro547_Lys554del
	ENST00000687295.1:c.1638_1661delACCCATGTATGAAGTACAGTGGAA	ENST00000687295.1:p.Pro547_Lys554del
	ENST00000689832.1:c.1653_1676delACCCATGTATGAAGTACAGTGGAA	ENST00000689832.1:p.Pro552_Lys559del
	ENST00000689994.1:c.1140_1163delACCCATGTATGAAGTACAGTGGAA	ENST00000689994.1:p.Pro381_Lys388del
	ENST00000690543.1:c.1641_1664delACCCATGTATGAAGTACAGTGGAA	ENST00000690543.1:p.Pro548_Lys555del
	ENST00000692783.1:c.1650_1673delACCCATGTATGAAGTACAGTGGAA	ENST00000692783.1:p.Pro551_Lys558del

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	COSM36872	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,Regorafenib,Ponatinib,Imatinib	D	Predictive	Supports	Sensitivity/Response	Somatic	4	25239608	Detail

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
In an in vitro study, an IL3 independent Ba/F3 cell line expressing KIT K550_W557del primary activat...	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: chr4:54,727,418-54,727,441
Variant Type: snv
Reference Allele: ACCCATGTATGAAGTACAGTGGAA
Alternative Allele: -
Variant (CIViC) (CIViC Variant): K550_W557del
Transcript 1 (CIViC Variant): ENST00000288135.5
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/948

Genome browser