Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138946621dup , CM000665.2:g.138946621dup | GRCh38 |
| NC_000003.11:g.138665463dup , CM000665.1:g.138665463dup | GRCh37 |
| NC_000003.10:g.140148153dup | NCBI36 |
| NG_012454.1:g.5520dup | |
| NG_029796.1:g.4388dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.102dup MANE Select | ENSP00000497217.1:p.Gly35ArgfsTer? | |
| ENST00000330315.3:c.102dup | ENSP00000333188.3:p.Gly35ArgfsTer? | |
| NM_023067.3:c.102dup | NP_075555.1:p.Gly35ArgfsTer? | |
| NM_023067.4:c.102dup MANE Select | NP_075555.1:p.Gly35ArgfsTer? |