Linked Data
dbSNP Id:
rs2151107723
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4932815_4932816del , CM000679.2:g.4932815_4932816del | GRCh38 |
| NC_000017.10:g.4836110_4836111del , CM000679.1:g.4836110_4836111del | GRCh37 |
| NC_000017.9:g.4776890_4776891del | NCBI36 |
| NG_008767.2:g.5521_5522del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329125.6:c.211_212del (GP1BA) MANE Select | ENSP00000329380.5:p.Thr71SerfsTer9 | |
| ENST00000649830.1:c.-888+1528_-888+1529del (CHRNE) | ENSP00000496907.1:n.-888+1528_-888+1529del | |
| ENST00000329125.5:c.211_212del (GP1BA) | ENSP00000329380.5:p.Thr71SerfsTer9 | |
| ENST00000611961.1:c.211_212del (GP1BA) | ENSP00000484439.1:p.Thr71SerfsTer9 | |
| NM_000173.6:c.211_212del (GP1BA) | NP_000164.5:p.Thr71SerfsTer9 | |
| NM_000173.7:c.211_212del (GP1BA) MANE Select | NP_000164.5:p.Thr71SerfsTer9 |