Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.54999557_54999560del , CM000663.2:g.54999557_54999560del | GRCh38 |
| NC_000001.10:g.55465230_55465233del , CM000663.1:g.55465230_55465233del | GRCh37 |
| NC_000001.9:g.55237818_55237821del | NCBI36 |
| NG_008965.1:g.5614_5617del | |
| NG_008965.2:g.5625_5628del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651561.1:c.177+194_177+197del MANE Select | ENSP00000498282.1:n.177+194_177+197del | |
| ENST00000371265.4:c.177+194_177+197del | ENSP00000360312.4:n.177+194_177+197del | |
| NM_057176.2:c.177+194_177+197del | NP_476517.1:n.177+194_177+197del | |
| NM_057176.3:c.177+194_177+197del MANE Select | NP_476517.1:n.177+194_177+197del |