Linked Data
ClinVar Variation Id:
1709981
ClinVar RCV Id:
RCV002290323
dbSNP Id:
rs759896582
ExAC:
12:53701465 CG / C
gnomAD v2:
12-53701465-CG-C
gnomAD v3:
12-53307681-CG-C
gnomAD v4:
12-53307681-CG-C
MyVariant Identifiers:
chr12:g.53701466del (hg19)
chr12:g.53307683del (hg38)
chr12:g.53307682del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53307684del , CM000674.2:g.53307684del | GRCh38 |
| NC_000012.11:g.53701468del , CM000674.1:g.53701468del | GRCh37 |
| NC_000012.10:g.51987735del | NCBI36 |
| NG_016775.1:g.18947del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.1448del MANE Select | ENSP00000209873.4:p.Pro483ArgfsTer? | |
| ENST00000546562.6:n.2512del | ||
| ENST00000547238.6:n.2084del | ||
| ENST00000547520.6:n.1564del | ||
| ENST00000547757.2:c.*366del | ENSP00000448020.2:n.*366del | |
| ENST00000548880.2:n.1898del | ||
| ENST00000548931.6:c.883del | ENSP00000457518.1:p.Arg295AlafsTer12 | |
| ENST00000549450.6:n.1382del | ||
| ENST00000552161.6:n.2526del | ||
| ENST00000672797.1:n.1937del | ||
| ENST00000209873.8:c.1448del | ENSP00000209873.4:p.Pro483ArgfsTer? | |
| ENST00000394384.7:c.1349del | ENSP00000377908.3:p.Pro450ArgfsTer? | |
| ENST00000548931.5:c.883del | ENSP00000457518.1:p.Arg295AlafsTer12 | |
| ENST00000550286.5:c.1076del | ENSP00000446885.1:p.Pro359ArgfsTer? | |
| ENST00000552876.5:n.1791del | ||
| NM_001173466.1:c.1349del | NP_001166937.1:p.Pro450ArgfsTer? | |
| NM_015665.5:c.1448del | NP_056480.1:p.Pro483ArgfsTer? | |
| XM_006719617.2:c.1463del | XP_006719680.1:p.Pro488ArgfsTer? | |
| XM_011538777.1:c.1505del | XP_011537079.1:p.Pro502ArgfsTer? | |
| XM_011538778.1:c.1490del | XP_011537080.1:p.Pro497ArgfsTer? | |
| XM_011538779.1:c.1406del | XP_011537081.1:p.Pro469ArgfsTer? | |
| XM_011538780.1:c.1391del | XP_011537082.1:p.Pro464ArgfsTer? | |
| XM_011538781.1:c.839del | XP_011537083.1:p.Pro280ArgfsTer? | |
| XM_011538778.2:c.1490del | XP_011537080.1:p.Pro497ArgfsTer? | |
| XM_011538780.2:c.1391del | XP_011537082.1:p.Pro464ArgfsTer? | |
| XR_001748875.2:n.1505del | ||
| NM_015665.6:c.1448del MANE Select | NP_056480.1:p.Pro483ArgfsTer? | |
| NM_001173466.2:c.1349del | NP_001166937.1:p.Pro450ArgfsTer? |