Linked Data
ClinVar Variation Id:
2636905
ClinVar RCV Id:
RCV004536679
dbSNP Id:
rs764596973
ExAC:
10:13167998 AATAATGC / A
gnomAD v2:
10-13167998-AATAATGC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.13126001_13126007del , CM000672.2:g.13126001_13126007del | GRCh38 |
| NC_000010.10:g.13168001_13168007del , CM000672.1:g.13168001_13168007del | GRCh37 |
| NC_000010.9:g.13208007_13208013del | NCBI36 |
| NG_012876.1:g.30920_30926del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378747.8:c.1204_1210del MANE Select | ENSP00000368021.3:p.Asn402Ter | |
| ENST00000263036.9:c.1204_1210del | ENSP00000263036.3:p.Asn402Ter | |
| ENST00000378747.7:c.1204_1210del | ENSP00000368021.3:p.Asn402Ter | |
| ENST00000378748.7:c.1204_1210del | ENSP00000368022.3:p.Asn402Ter | |
| ENST00000378752.7:c.1186_1192del | ENSP00000368027.3:p.Asn396Ter | |
| ENST00000378757.6:c.1204_1210del | ENSP00000368032.2:p.Asn402Ter | |
| ENST00000378764.6:c.1186_1192del | ENSP00000368040.1:p.Asn396Ter | |
| NM_001008211.1:c.1204_1210del | NP_001008212.1:p.Asn402Ter | |
| NM_001008212.1:c.1204_1210del | NP_001008213.1:p.Asn402Ter | |
| NM_001008213.1:c.1204_1210del | NP_001008214.1:p.Asn402Ter | |
| NM_021980.4:c.1204_1210del | NP_068815.2:p.Asn402Ter | |
| XM_005252336.2:c.1186_1192del | XP_005252393.2:p.Asn396Ter | |
| XM_005252337.3:c.1186_1192del | XP_005252394.2:p.Asn396Ter | |
| XM_005252338.2:c.1033_1039del | XP_005252395.2:p.Asn345Ter | |
| NM_001008212.2:c.1204_1210del MANE Select | NP_001008213.1:p.Asn402Ter |