Linked Data
dbSNP Id:
rs2108749773
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129530530_129530537del , CM000665.2:g.129530530_129530537del | GRCh38 |
| NC_000003.11:g.129249373_129249380del , CM000665.1:g.129249373_129249380del | GRCh37 |
| NC_000003.10:g.130732063_130732070del | NCBI36 |
| NG_009115.1:g.6892_6899del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.362-346_362-339del MANE Select | ENSP00000296271.3:n.362-346_362-339del | |
| ENST00000296271.3:c.362-346_362-339del | ENSP00000296271.3:n.362-346_362-339del | |
| NM_000539.3:c.362-346_362-339del MANE Select | NP_000530.1:n.362-346_362-339del |