Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133644257_133644258dup , CM000671.2:g.133644257_133644258dup | GRCh38 |
| NC_000009.11:g.136509379_136509380dup , CM000671.1:g.136509379_136509380dup | GRCh37 |
| NC_000009.10:g.135499200_135499201dup | NCBI36 |
| NG_008645.1:g.12895_12896dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393056.8:c.961_962dup MANE Select | ENSP00000376776.2:p.Pro322ValfsTer19 | |
| ENST00000393056.6:c.961_962dup | ENSP00000376776.2:p.Pro322ValfsTer19 | |
| NM_000787.3:c.961_962dup | NP_000778.3:p.Pro322ValfsTer19 | |
| NM_000787.4:c.961_962dup MANE Select | NP_000778.3:p.Pro322ValfsTer19 |