Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31526167del , CM000664.2:g.31526167del | GRCh38 |
| NC_000002.11:g.31751237del , CM000664.1:g.31751237del | GRCh37 |
| NC_000002.10:g.31604741del | NCBI36 |
| NG_008365.1:g.59807del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622030.2:c.*31del MANE Select | ENSP00000477587.1:n.*31del | |
| ENST00000622030.1:c.*31del | ENSP00000477587.1:n.*31del | |
| NM_000348.3:c.*31del | NP_000339.2:n.*31del | |
| XM_011533069.1:c.*31del | XP_011531371.1:n.*31del | |
| XM_011533070.1:c.*31del | XP_011531372.1:n.*31del | |
| XM_011533071.1:c.*31del | XP_011531373.1:n.*31del | |
| XM_011533072.1:c.*31del | XP_011531374.1:n.*31del | |
| XM_011533069.2:c.*31del | XP_011531371.1:n.*31del | |
| XM_011533072.2:c.*31del | XP_011531374.1:n.*31del | |
| NM_000348.4:c.*31del MANE Select | NP_000339.2:n.*31del |