Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77454300_77454302dup , CM000685.2:g.77454300_77454302dup | GRCh38 |
| NC_000023.10:g.76709791_76709793dup , CM000685.1:g.76709791_76709793dup | GRCh37 |
| NC_000023.9:g.76596447_76596449dup | NCBI36 |
| NG_034050.1:g.11626_11628dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003868.3:c.378+40_378+42dup MANE Select | NP_003859.1:n.378+40_378+42dup |
| ENST00000439435.3:c.378+40_378+42dup MANE Select | ENSP00000399324.2:n.378+40_378+42dup |
| NM_003868.2:c.378+40_378+42dup | NP_003859.1:n.378+40_378+42dup |
| ENST00000439435.2:c.378+40_378+42dup | ENSP00000399324.2:n.378+40_378+42dup |