gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68430797_68430800del , CM000663.2:g.68430797_68430800del | GRCh38 |
| NC_000001.10:g.68896480_68896483del , CM000663.1:g.68896480_68896483del | GRCh37 |
| NC_000001.9:g.68669068_68669071del | NCBI36 |
| NG_008472.1:g.24164_24167del | |
| NG_008472.2:g.24164_24167del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1450+269_1450+272del MANE Select | ENSP00000262340.5:n.1450+269_1450+272del | |
| ENST00000262340.5:c.1450+269_1450+272del | ENSP00000262340.5:n.1450+269_1450+272del | |
| NM_000329.2:c.1450+269_1450+272del | NP_000320.1:n.1450+269_1450+272del | |
| XM_017002027.1:c.1174+269_1174+272del | XP_016857516.1:n.1174+269_1174+272del | |
| NM_000329.3:c.1450+269_1450+272del MANE Select | NP_000320.1:n.1450+269_1450+272del |