Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.77794627_77794628del , CM000671.2:g.77794627_77794628del | GRCh38 |
| NC_000009.11:g.80409543_80409544del , CM000671.1:g.80409543_80409544del | GRCh37 |
| NC_000009.10:g.79599363_79599364del | NCBI36 |
| NG_027904.2:g.241679_241680del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286548.9:c.606-33_606-32del MANE Select | ENSP00000286548.4:n.606-33_606-32del | |
| ENST00000286548.8:c.606-33_606-32del | ENSP00000286548.4:n.606-33_606-32del | |
| NM_002072.4:c.606-33_606-32del | NP_002063.2:n.606-33_606-32del | |
| XM_017014628.2:c.432-33_432-32del | XP_016870117.1:n.432-33_432-32del | |
| NM_002072.5:c.606-33_606-32del MANE Select | NP_002063.2:n.606-33_606-32del |