Linked Data
dbSNP Id:
rs1762578331
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1612756_1612758del , CM000668.2:g.1612756_1612758del | GRCh38 |
| NC_000006.11:g.1612991_1612993del , CM000668.1:g.1612991_1612993del | GRCh37 |
| NC_000006.10:g.1557990_1557992del | NCBI36 |
| NG_009368.1:g.7311_7313del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.*649_*651del MANE Select | ENSP00000493906.1:n.*649_*651del | |
| ENST00000380874.3:c.*649_*651del | ENSP00000370256.2:n.*649_*651del | |
| NM_001453.2:c.2311_2313del | NP_001444.2:n.2311_2313del | |
| NM_001453.3:c.*649_*651del MANE Select | NP_001444.2:n.*649_*651del |