Linked Data
dbSNP Id:
rs1762516238
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1610535_1610537del , CM000668.2:g.1610535_1610537del | GRCh38 |
| NC_000006.11:g.1610770_1610772del , CM000668.1:g.1610770_1610772del | GRCh37 |
| NC_000006.10:g.1555769_1555771del | NCBI36 |
| NG_009368.1:g.5090_5092del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.90_92del MANE Select | ENSP00000493906.1:p.Ala31del | |
| ENST00000380874.3:c.90_92del | ENSP00000370256.2:p.Ala31del | |
| NM_001453.2:c.90_92del | NP_001444.2:p.Ala31del | |
| NM_001453.3:c.90_92del MANE Select | NP_001444.2:p.Ala31del |