Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.54999530_54999531del , CM000663.2:g.54999530_54999531del | GRCh38 |
| NC_000001.10:g.55465203_55465204del , CM000663.1:g.55465203_55465204del | GRCh37 |
| NC_000001.9:g.55237791_55237792del | NCBI36 |
| NG_008965.1:g.5587_5588del | |
| NG_008965.2:g.5598_5599del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651561.1:c.177+167_177+168del MANE Select | ENSP00000498282.1:n.177+167_177+168del | |
| ENST00000371265.4:c.177+167_177+168del | ENSP00000360312.4:n.177+167_177+168del | |
| NM_057176.2:c.177+167_177+168del | NP_476517.1:n.177+167_177+168del | |
| NM_057176.3:c.177+167_177+168del MANE Select | NP_476517.1:n.177+167_177+168del |