Linked Data
dbSNP Id:
rs1821304552
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.38396906_38396907del , CM000671.2:g.38396906_38396907del | GRCh38 |
| NC_000009.11:g.38396903_38396904del , CM000671.1:g.38396903_38396904del | GRCh37 |
| NC_000009.10:g.38386903_38386904del | NCBI36 |
| NG_012253.1:g.9202_9203del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377698.4:c.1158_1159del MANE Select | ENSP00000366927.3:p.Cys386TrpfsTer23 | |
| ENST00000377698.3:c.1158_1159del | ENSP00000366927.3:p.Cys386TrpfsTer23 | |
| NM_000692.4:c.1158_1159del | NP_000683.3:p.Cys386TrpfsTer23 | |
| XM_011517802.1:c.1158_1159del | XP_011516104.1:p.Cys386TrpfsTer23 | |
| XM_011517802.2:c.1158_1159del | XP_011516104.1:p.Cys386TrpfsTer23 | |
| NM_000692.5:c.1158_1159del MANE Select | NP_000683.3:p.Cys386TrpfsTer23 |