Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122506744_122506745delinsGT , CM000672.2:g.122506744_122506745delinsGT | GRCh38 |
| NC_000010.10:g.124266260_124266261delinsGT , CM000672.1:g.124266260_124266261delinsGT | GRCh37 |
| NC_000010.9:g.124256250_124256251delinsGT | NCBI36 |
| NG_011554.1:g.50220_50221delinsGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.831_832delinsGT MANE Select | ENSP00000357980.3:p.Glu277= | |
| ENST00000648167.1:c.513_514delinsGT | ENSP00000498033.1:p.Glu171= | |
| ENST00000368984.7:c.831_832delinsGT | ENSP00000357980.3:p.Glu277= | |
| ENST00000420892.1:c.54_55delinsGT | ENSP00000412676.1:p.Glu18= | |
| NM_002775.4:c.831_832delinsGT | NP_002766.1:p.Glu277= | |
| NM_002775.5:c.831_832delinsGT MANE Select | NP_002766.1:p.Glu277= |