Linked Data
ClinVar Variation Id:
1224520
ClinVar RCV Id:
RCV001843374
dbSNP Id:
rs1183655796
gnomAD v2:
6-1611183-TGCG-T
gnomAD v3:
6-1610948-TGCG-T
gnomAD v4:
6-1610948-TGCG-T
COSMIC:
COSM5081850
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1610961_1610963del , CM000668.2:g.1610961_1610963del | GRCh38 |
| NC_000006.11:g.1611196_1611198del , CM000668.1:g.1611196_1611198del | GRCh37 |
| NC_000006.10:g.1556195_1556197del | NCBI36 |
| NG_009368.1:g.5516_5518del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.516_518del MANE Select | ENSP00000493906.1:p.Arg173del | |
| ENST00000380874.3:c.516_518del | ENSP00000370256.2:p.Arg173del | |
| NM_001453.2:c.516_518del | NP_001444.2:p.Arg173del | |
| NM_001453.3:c.516_518del MANE Select | NP_001444.2:p.Arg173del |