Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129532265_129532266delinsAA , CM000665.2:g.129532265_129532266delinsAA | GRCh38 |
| NC_000003.11:g.129251108_129251109delinsAA , CM000665.1:g.129251108_129251109delinsAA | GRCh37 |
| NC_000003.10:g.130733798_130733799delinsAA | NCBI36 |
| NG_009115.1:g.8627_8628delinsAA |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000539.3:c.545_546delinsAA MANE Select | NP_000530.1:p.Gly182Glu |
| ENST00000296271.4:c.545_546delinsAA MANE Select | ENSP00000296271.3:p.Gly182Glu |
| ENST00000296271.3:c.545_546delinsAA | ENSP00000296271.3:p.Gly182Glu |