Linked Data
dbSNP Id:
rs2084773497
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129530695_129530696del , CM000665.2:g.129530695_129530696del | GRCh38 |
| NC_000003.11:g.129249538_129249539del , CM000665.1:g.129249538_129249539del | GRCh37 |
| NC_000003.10:g.130732228_130732229del | NCBI36 |
| NG_009115.1:g.7057_7058del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.362-181_362-180del MANE Select | ENSP00000296271.3:n.362-181_362-180del | |
| ENST00000296271.3:c.362-181_362-180del | ENSP00000296271.3:n.362-181_362-180del | |
| NM_000539.3:c.362-181_362-180del MANE Select | NP_000530.1:n.362-181_362-180del |