chr4:54726020:>GCCTAT Detail (hg38) (KIT)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr4:55,592,186-55,592,186 |
hg38 | chr4:54,726,020-54,726,020 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001093772.1:c.1512_1513insGCCTAT | NP_001087241.1:p.Ala503_Tyr504dup |
NM_000222.2:c.1509_1510insGCCTAT | NP_000213.1:p.Ala502_Tyr503dup | |
Ensemble | ENST00000690543.1:c.1512_1513insGCCTAT | ENST00000690543.1:p.Ala503_Tyr504dup |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2023-02-15 | criteria provided, single submitter | not provided |
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Detail |
CIViC
DisGeNET
[No Data.]
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
In an in vitro study of imatinib sensitivity, KIT Y503_F504insAY was cloned into a plasmid by site-d... | CIViC Evidence | Detail |
NM_000222.3(KIT):c.1504_1509dup (p.Tyr503_Phe504insAlaTyr) AND not provided | ClinVar | 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
- chr4:54,726,020-54,726,020
- Variant Type
- snv
- Reference Allele
- -
- Alternative Allele
- GCCTAT
- Variant (CIViC) (CIViC Variant)
- Y503_F504insAY
- Transcript 1 (CIViC Variant)
- ENST00000288135.5
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/946
- Variant (CIViC) (CIViC Variant)
- S501_A502INSAY
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1206
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