Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225694_5225697dup , CM000673.2:g.5225694_5225697dup | GRCh38 |
| NC_000011.9:g.5246924_5246927dup , CM000673.1:g.5246924_5246927dup | GRCh37 |
| NC_000011.8:g.5203500_5203503dup | NCBI36 |
| NG_000007.3:g.71919_71922dup | |
| NG_059281.1:g.6375_6378dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000518.5:c.345_348dup MANE Select | NP_000509.1:p.His117GlyfsTer25 |
| ENST00000335295.4:c.345_348dup MANE Select | ENSP00000333994.3:p.His117GlyfsTer25 |
| NM_000518.4:c.345_348dup | NP_000509.1:p.His117GlyfsTer25 |
| ENST00000475226.1:n.277_280dup | |
| ENST00000633227.1:c.*161_*164dup | ENSP00000488004.1:n.*161_*164dup |
| ENST00000647020.1:c.345_348dup | ENSP00000494175.1:p.His117GlyfsTer25 |