Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94056513_94056553del , CM000663.2:g.94056513_94056553del | GRCh38 |
| NC_000001.10:g.94522069_94522109del , CM000663.1:g.94522069_94522109del | GRCh37 |
| NC_000001.9:g.94294657_94294697del | NCBI36 |
| NG_009073.1:g.69603_69643del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.2382+54_2382+94del MANE Select | ENSP00000359245.3:n.2382+54_2382+94del | |
| ENST00000649773.1:c.2161-1232_2161-1192del | ENSP00000496882.1:n.2161-1232_2161-1192del | |
| ENST00000370225.3:c.2382+54_2382+94del | ENSP00000359245.3:n.2382+54_2382+94del | |
| ENST00000536513.5:c.-65+6627_-65+6667del | ENSP00000439707.2:n.-65+6627_-65+6667del | |
| NM_000350.2:c.2382+54_2382+94del | NP_000341.2:n.2382+54_2382+94del | |
| NM_000350.3:c.2382+54_2382+94del MANE Select | NP_000341.2:n.2382+54_2382+94del |