Linked Data
ClinVar Variation Id:
161646
ClinVar RCV Id:
RCV000149182
dbSNP Id:
rs193920848
gnomAD v2:
9-139571942-CG-C
gnomAD v4:
9-136677490-CG-C
COSMIC:
COSM1179723
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136677493del , CM000671.2:g.136677493del | GRCh38 |
| NC_000009.11:g.139571945del , CM000671.1:g.139571945del | GRCh37 |
| NC_000009.10:g.138691766del | NCBI36 |
| NG_008090.1:g.14969del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371696.7:c.248del MANE Select | ENSP00000360761.2:p.Pro83ArgfsTer22 | |
| ENST00000371694.7:c.248del | ENSP00000360759.3:p.Pro83ArgfsTer22 | |
| ENST00000371696.6:c.248del | ENSP00000360761.2:p.Pro83ArgfsTer22 | |
| ENST00000470861.1:n.256del | ||
| ENST00000538402.1:c.248del | ENSP00000438919.1:p.Pro83ArgfsTer22 | |
| NM_001012727.1:c.248del | NP_001012745.1:p.Pro83ArgfsTer22 | |
| NM_006412.3:c.248del | NP_006403.2:p.Pro83ArgfsTer22 | |
| NM_006412.4:c.248del MANE Select | NP_006403.2:p.Pro83ArgfsTer22 | |
| NM_001012727.2:c.248del | NP_001012745.1:p.Pro83ArgfsTer22 |