Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64751412dup , CM000673.2:g.64751412dup | GRCh38 |
| NC_000011.9:g.64518884dup , CM000673.1:g.64518884dup | GRCh37 |
| NC_000011.8:g.64275460dup | NCBI36 |
| NG_013018.1:g.14307dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.1885dup MANE Select | ENSP00000164139.3:p.Asp629GlyfsTer6 | |
| ENST00000164139.3:c.1885dup | ENSP00000164139.3:p.Asp629GlyfsTer6 | |
| ENST00000377432.7:c.1621dup | ENSP00000366650.3:p.Asp541GlyfsTer6 | |
| ENST00000462303.1:n.209dup | ||
| NM_001164716.1:c.1621dup | NP_001158188.1:p.Asp541GlyfsTer6 | |
| NM_005609.2:c.1885dup | NP_005600.1:p.Asp629GlyfsTer6 | |
| NM_005609.3:c.1885dup | NP_005600.1:p.Asp629GlyfsTer6 | |
| NM_005609.4:c.1885dup MANE Select | NP_005600.1:p.Asp629GlyfsTer6 |