Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55125244dup , CM000666.2:g.55125244dup | GRCh38 |
| NC_000004.11:g.55991411dup , CM000666.1:g.55991411dup | GRCh37 |
| NC_000004.10:g.55686168dup | NCBI36 |
| NG_012004.1:g.5354dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263923.5:c.52dup MANE Select | ENSP00000263923.4:p.Arg18ProfsTer9 | |
| ENST00000263923.4:c.52dup | ENSP00000263923.4:p.Arg18ProfsTer9 | |
| ENST00000512566.1:n.52dup | ||
| NM_002253.2:c.52dup | NP_002244.1:p.Arg18ProfsTer9 | |
| NM_002253.3:c.52dup | NP_002244.1:p.Arg18ProfsTer9 | |
| NM_002253.4:c.52dup MANE Select | NP_002244.1:p.Arg18ProfsTer9 |