Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23868129_23868138del , CM000663.2:g.23868129_23868138del | GRCh38 |
| NC_000001.10:g.24194619_24194628del , CM000663.1:g.24194619_24194628del | GRCh37 |
| NC_000001.9:g.24067206_24067215del | NCBI36 |
| NG_013346.1:g.5234_5243del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.151_160del MANE Select | ENSP00000363603.3:p.Ala51ThrfsTer? | |
| ENST00000374479.3:c.151_160del | ENSP00000363603.3:p.Ala51ThrfsTer? | |
| NM_000147.4:c.151_160del | NP_000138.2:p.Ala51ThrfsTer? | |
| XM_005245821.1:c.-399_-390del | XP_005245878.1:n.-399_-390del | |
| XM_005245821.3:c.-399_-390del | XP_005245878.1:n.-399_-390del | |
| NM_000147.5:c.151_160del MANE Select | NP_000138.2:p.Ala51ThrfsTer? | |
| NR_174379.1:n.155_164del | ||
| NR_174380.1:n.155_164del | ||
| NR_174381.1:n.155_164del | ||
| NR_174382.1:n.155_164del |