Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38145914dup , CM000670.2:g.38145914dup | GRCh38 |
| NC_000008.10:g.38003432dup , CM000670.1:g.38003432dup | GRCh37 |
| NC_000008.9:g.38122589dup | NCBI36 |
| NG_011827.1:g.10169dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.650+49dup MANE Select | ENSP00000276449.3:n.650+49dup | |
| ENST00000276449.8:c.650+49dup | ENSP00000276449.3:n.650+49dup | |
| ENST00000520114.1:n.1186dup | ||
| ENST00000522050.1:c.586+49dup | ||
| NM_000349.2:c.650+49dup | NP_000340.2:n.650+49dup | |
| XM_006716392.1:c.650+49dup | XP_006716455.1:n.650+49dup | |
| NM_000349.3:c.650+49dup MANE Select | NP_000340.2:n.650+49dup |