Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94021523_94021528del , CM000663.2:g.94021523_94021528del | GRCh38 |
| NC_000001.10:g.94487079_94487084del , CM000663.1:g.94487079_94487084del | GRCh37 |
| NC_000001.9:g.94259667_94259672del | NCBI36 |
| NG_009073.1:g.104622_104627del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4848+112_4849-114del MANE Select | ENSP00000359245.3:n.4848+112_4849-114del | |
| ENST00000370225.3:c.4848+112_4849-114del | ENSP00000359245.3:n.4848+112_4849-114del | |
| ENST00000460514.1:n.342+112_343-114del | ||
| ENST00000536513.5:c.1224+112_1225-114del | ENSP00000439707.2:n.1224+112_1225-114del | |
| NM_000350.2:c.4848+112_4849-114del | NP_000341.2:n.4848+112_4849-114del | |
| NM_000350.3:c.4848+112_4849-114del MANE Select | NP_000341.2:n.4848+112_4849-114del |