Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94056440_94056538del , CM000663.2:g.94056440_94056538del | GRCh38 |
| NC_000001.10:g.94521996_94522094del , CM000663.1:g.94521996_94522094del | GRCh37 |
| NC_000001.9:g.94294584_94294682del | NCBI36 |
| NG_009073.1:g.69613_69711del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.2382+64_2382+162del MANE Select | ENSP00000359245.3:n.2382+64_2382+162del | |
| ENST00000649773.1:c.2161-1222_2161-1124del | ENSP00000496882.1:n.2161-1222_2161-1124del | |
| ENST00000370225.3:c.2382+64_2382+162del | ENSP00000359245.3:n.2382+64_2382+162del | |
| ENST00000536513.5:c.-65+6637_-65+6735del | ENSP00000439707.2:n.-65+6637_-65+6735del | |
| NM_000350.2:c.2382+64_2382+162del | NP_000341.2:n.2382+64_2382+162del | |
| NM_000350.3:c.2382+64_2382+162del MANE Select | NP_000341.2:n.2382+64_2382+162del |