Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138946354dup , CM000665.2:g.138946354dup | GRCh38 |
| NC_000003.11:g.138665196dup , CM000665.1:g.138665196dup | GRCh37 |
| NC_000003.10:g.140147886dup | NCBI36 |
| NG_012454.1:g.5787dup | |
| NG_029796.1:g.4121dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.369dup MANE Select | ENSP00000497217.1:p.Lys124GlnfsTer? | |
| ENST00000330315.3:c.369dup | ENSP00000333188.3:p.Lys124GlnfsTer? | |
| NM_023067.3:c.369dup | NP_075555.1:p.Lys124GlnfsTer? | |
| NM_023067.4:c.369dup MANE Select | NP_075555.1:p.Lys124GlnfsTer? |