Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48965347_48965348del , CM000681.2:g.48965347_48965348del | GRCh38 |
| NC_000019.9:g.49468604_49468605del , CM000681.1:g.49468604_49468605del | GRCh37 |
| NC_000019.8:g.54160416_54160417del | NCBI36 |
| NG_008152.1:g.5039_5040del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331825.11:c.-161_-160del MANE Select | ENSP00000366525.2:n.-161_-160del | |
| ENST00000331825.10:c.-161_-160del | ENSP00000366525.2:n.-161_-160del | |
| ENST00000622577.2:c.-161_-160del | ENSP00000484043.1:n.-161_-160del | |
| NM_000146.3:c.-161_-160del | NP_000137.2:n.-161_-160del | |
| XM_024451447.1:c.350_351del | XP_024307215.1:p.Thr117SerfsTer? | |
| NM_000146.4:c.-161_-160del MANE Select | NP_000137.2:n.-161_-160del |