Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55125284dup , CM000666.2:g.55125284dup | GRCh38 |
| NC_000004.11:g.55991451dup , CM000666.1:g.55991451dup | GRCh37 |
| NC_000004.10:g.55686208dup | NCBI36 |
| NG_012004.1:g.5313dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263923.5:c.11dup MANE Select | ENSP00000263923.4:p.Val5GlyfsTer22 | |
| ENST00000263923.4:c.11dup | ENSP00000263923.4:p.Val5GlyfsTer22 | |
| ENST00000512566.1:n.11dup | ||
| NM_002253.2:c.11dup | NP_002244.1:p.Val5GlyfsTer22 | |
| NM_002253.3:c.11dup | NP_002244.1:p.Val5GlyfsTer22 | |
| NM_002253.4:c.11dup MANE Select | NP_002244.1:p.Val5GlyfsTer22 |