Linked Data
dbSNP Id:
rs1651809961
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152304546_152304548del , CM000663.2:g.152304546_152304548del | GRCh38 |
| NC_000001.10:g.152277022_152277024del , CM000663.1:g.152277022_152277024del | GRCh37 |
| NC_000001.9:g.150543646_150543648del | NCBI36 |
| NG_016190.1:g.25656_25658del , LRG_1028:g.25656_25658del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.10338_10340del MANE Select | ENSP00000357789.1:p.Gly3447del | |
| ENST00000368799.1:c.10338_10340del | ENSP00000357789.1:p.Gly3447del | |
| NM_002016.1:c.10338_10340del , LRG_1028t1:c.10338_10340del | NP_002007.1:p.Gly3447del | |
| XM_011509329.1:c.9109-715_9109-713del | XP_011507631.1:n.9109-715_9109-713del | |
| NM_002016.2:c.10338_10340del MANE Select | NP_002007.1:p.Gly3447del |