Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.93998177_93998178dup , CM000663.2:g.93998177_93998178dup | GRCh38 |
| NC_000001.10:g.94463733_94463734dup , CM000663.1:g.94463733_94463734dup | GRCh37 |
| NC_000001.9:g.94236321_94236322dup | NCBI36 |
| NG_009073.1:g.127972_127973dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6480-68_6480-67dup MANE Select | ENSP00000359245.3:n.6480-68_6480-67dup | |
| ENST00000370225.3:c.6480-68_6480-67dup | ENSP00000359245.3:n.6480-68_6480-67dup | |
| ENST00000536513.5:c.2856-68_2856-67dup | ENSP00000439707.2:n.2856-68_2856-67dup | |
| NM_000350.2:c.6480-68_6480-67dup | NP_000341.2:n.6480-68_6480-67dup | |
| NM_000350.3:c.6480-68_6480-67dup MANE Select | NP_000341.2:n.6480-68_6480-67dup |