Linked Data
ClinVar Variation Id:
35815
ClinVar RCV Id:
RCV000029467
dbSNP Id:
rs193922638
gnomAD v2:
9-135946657-GC-G
gnomAD v3:
9-133071270-GC-G
gnomAD v4:
9-133071270-GC-G
COSMIC:
COSM4671392
MyVariant Identifiers:
chr9:g.135946665del (hg19)
chr9:g.135946658del (hg19)
chr9:g.133071278del (hg38)
chr9:g.133071271del (hg38)
PubMed:
PMID:16369531
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133071278del , CM000671.2:g.133071278del | GRCh38 |
| NC_000009.11:g.135946665del , CM000671.1:g.135946665del | GRCh37 |
| NC_000009.10:g.134936486del | NCBI36 |
| NG_016394.1:g.14301del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372080.8:c.1776del MANE Select | ENSP00000361151.6:p.Val593CysfsTer? | |
| ENST00000372080.6:c.1785del | ENSP00000361151.4:p.Val596CysfsTer? | |
| ENST00000621209.1:c.*723+53del | ENSP00000480238.1:n.*723+53del | |
| NM_001807.4:c.1785del | NP_001798.2:p.Val596CysfsTer? | |
| NM_001807.5:c.1776del | NP_001798.3:p.Val593CysfsTer? | |
| NM_001807.6:c.1776del MANE Select | NP_001798.3:p.Val593CysfsTer? |