Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64750419dup , CM000673.2:g.64750419dup | GRCh38 |
| NC_000011.9:g.64517891dup , CM000673.1:g.64517891dup | GRCh37 |
| NC_000011.8:g.64274467dup | NCBI36 |
| NG_007574.1:g.40dup , LRG_100:g.40dup | |
| NG_013018.1:g.15299dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005609.4:c.2136dup MANE Select | NP_005600.1:p.Gly713TrpfsTer9 |
| ENST00000164139.4:c.2136dup MANE Select | ENSP00000164139.3:p.Gly713TrpfsTer9 |
| NM_001164716.1:c.1872dup | NP_001158188.1:p.Gly625TrpfsTer9 |
| NM_005609.2:c.2136dup | NP_005600.1:p.Gly713TrpfsTer9 |
| NM_005609.3:c.2136dup | NP_005600.1:p.Gly713TrpfsTer9 |
| ENST00000164139.3:c.2136dup | ENSP00000164139.3:p.Gly713TrpfsTer9 |
| ENST00000377432.7:c.1872dup | ENSP00000366650.3:p.Gly625TrpfsTer9 |