Linked Data
dbSNP Id:
rs1970377997
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4933779_4933934del , CM000679.2:g.4933779_4933934del | GRCh38 |
| NC_000017.10:g.4837074_4837229del , CM000679.1:g.4837074_4837229del | GRCh37 |
| NG_008767.2:g.6485_6640del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329125.6:c.1175_1330del (GP1BA) MANE Select | ENSP00000329380.5:p.Val392_Pro443del | |
| ENST00000649830.1:c.-888+423_-888+578del (CHRNE) | ENSP00000496907.1:n.-888+423_-888+578del | |
| ENST00000329125.5:c.1175_1330del (GP1BA) | ENSP00000329380.5:p.Val392_Pro443del | |
| ENST00000611961.1:c.1175_1273-21del (GP1BA) | ||
| NM_000173.6:c.1175_1330del (GP1BA) | NP_000164.5:p.Val392_Pro443del | |
| NM_000173.7:c.1175_1330del (GP1BA) MANE Select | NP_000164.5:p.Val392_Pro443del |