Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322736dup , CM000677.2:g.73322736dup | GRCh38 |
| NC_000015.9:g.73615077dup , CM000677.1:g.73615077dup | GRCh37 |
| NC_000015.8:g.71402130dup | NCBI36 |
| NG_009063.1:g.51532dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3360dup MANE Select | ENSP00000261917.3:p.Arg1121GlnfsTer? | |
| ENST00000261917.3:c.3360dup | ENSP00000261917.3:p.Arg1121GlnfsTer? | |
| NM_005477.2:c.3360dup | NP_005468.1:p.Arg1121GlnfsTer? | |
| XM_011521148.1:c.2142dup | XP_011519450.1:p.Arg715GlnfsTer? | |
| XM_011521148.2:c.2142dup | XP_011519450.1:p.Arg715GlnfsTer? | |
| NM_005477.3:c.3360dup MANE Select | NP_005468.1:p.Arg1121GlnfsTer? |