Linked Data
ClinVar Variation Id:
29957
ClinVar RCV Id:
RCV000022849
dbSNP Id:
rs398122851
PubMed:
PMID:22284829
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.110688710del , CM000685.2:g.110688710del | GRCh38 |
| NC_000023.10:g.109931938del , CM000685.1:g.109931938del | GRCh37 |
| NC_000023.9:g.109818594del | NCBI36 |
| NG_012816.1:g.112349del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372042.6:c.872del MANE Select | ENSP00000361112.1:p.Cys291LeufsTer25 | |
| ENST00000372042.5:c.872del | ENSP00000361112.1:p.Cys291LeufsTer25 | |
| ENST00000372045.5:c.851del | ENSP00000361115.1:p.Cys284LeufsTer25 | |
| ENST00000394797.8:c.869del | ENSP00000378276.4:p.Cys290LeufsTer25 | |
| ENST00000444321.2:c.869del | ENSP00000399739.2:p.Cys290LeufsTer25 | |
| ENST00000482160.5:c.632del | ENSP00000418443.1:p.Cys211LeufsTer25 | |
| NM_001143981.1:c.872del | NP_001137453.1:p.Cys291LeufsTer25 | |
| NM_001143982.1:c.869del | NP_001137454.1:p.Cys290LeufsTer25 | |
| NM_001143983.2:c.632del | NP_001137455.2:p.Cys211LeufsTer25 | |
| NM_145234.3:c.869del | NP_660277.2:p.Cys290LeufsTer25 | |
| XM_005262221.1:c.872del | XP_005262278.1:p.Cys291LeufsTer25 | |
| XM_005262222.3:c.869del | XP_005262279.1:p.Cys290LeufsTer25 | |
| XM_005262223.1:c.872del | XP_005262280.1:p.Cys291LeufsTer25 | |
| XM_005262224.1:c.869del | XP_005262281.1:p.Cys290LeufsTer25 | |
| XM_017029959.1:c.872del | XP_016885448.1:p.Cys291LeufsTer25 | |
| NM_001367204.1:c.872del | NP_001354133.1:p.Cys291LeufsTer25 | |
| NM_001367205.1:c.872del | NP_001354134.1:p.Cys291LeufsTer25 | |
| NM_001367206.1:c.872del | NP_001354135.1:p.Cys291LeufsTer25 | |
| NM_001367207.1:c.869del | NP_001354136.1:p.Cys290LeufsTer25 | |
| NM_001367208.1:c.872del | NP_001354137.1:p.Cys291LeufsTer25 | |
| NM_001367209.1:c.872del | NP_001354138.1:p.Cys291LeufsTer25 | |
| NR_159734.1:n.1135del | ||
| NM_001143981.2:c.872del MANE Select | NP_001137453.1:p.Cys291LeufsTer25 | |
| NM_001143982.2:c.869del | NP_001137454.1:p.Cys290LeufsTer25 | |
| NM_001143983.3:c.632del | NP_001137455.2:p.Cys211LeufsTer25 | |
| NM_145234.4:c.869del | NP_660277.2:p.Cys290LeufsTer25 |