Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110911152dup , CM000674.2:g.110911152dup | GRCh38 |
| NC_000012.11:g.111348956dup , CM000674.1:g.111348956dup | GRCh37 |
| NC_000012.10:g.109833339dup | NCBI36 |
| NG_007554.1:g.14431dup , LRG_393:g.14431dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000432.4:c.431dup MANE Select | NP_000423.2:p.Asp145Ter |
| ENST00000228841.15:c.431dup MANE Select | ENSP00000228841.8:p.Asp145Ter |
| NM_000432.3:c.431dup , LRG_393t1:c.431dup | NP_000423.2:p.Asp145Ter |
| ENST00000228841.12:c.431dup | ENSP00000228841.7:p.Asp145Ter |
| ENST00000548438.1:c.389dup | ENSP00000447154.1:p.Asp131Ter |
| ENST00000663220.1:c.374dup | ENSP00000499568.1:p.Asp126Ter |