gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74752130_74752131del , CM000677.2:g.74752130_74752131del | GRCh38 |
| NC_000015.9:g.75044471_75044472del , CM000677.1:g.75044471_75044472del | GRCh37 |
| NC_000015.8:g.72831524_72831525del | NCBI36 |
| NG_008431.1:g.34589_34590del | |
| NG_008431.2:g.34589_34590del | |
| NG_061543.1:g.8286_8287del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.1049_1050del MANE Select | ENSP00000342007.4:p.Val350AspfsTer11 | |
| ENST00000343932.4:c.1049_1050del | ENSP00000342007.4:p.Val350AspfsTer11 | |
| NM_000761.4:c.1049_1050del | NP_000752.2:p.Val350AspfsTer11 | |
| NM_000761.5:c.1049_1050del MANE Select | NP_000752.2:p.Val350AspfsTer11 |