Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197039215dup , CM000663.2:g.197039215dup | GRCh38 |
| NC_000001.10:g.197008345dup , CM000663.1:g.197008345dup | GRCh37 |
| NC_000001.9:g.195274968dup | NCBI36 |
| NG_012065.1:g.33054dup , LRG_550:g.33054dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367412.2:c.*164dup MANE Select | ENSP00000356382.2:n.*164dup | |
| ENST00000649282.1:c.905dup | ENSP00000497116.1:n.905dup | |
| ENST00000367412.1:c.*164dup | ENSP00000356382.1:n.*164dup | |
| NM_001994.2:c.*164dup , LRG_550t1:c.*164dup | NP_001985.2:n.*164dup | |
| XM_011509283.2:c.*1085dup | XP_011507585.1:n.*1085dup | |
| XM_011509284.2:c.*1085dup | XP_011507586.1:n.*1085dup | |
| XM_011509286.2:c.*1085dup | XP_011507588.1:n.*1085dup | |
| NM_001994.3:c.*164dup MANE Select | NP_001985.2:n.*164dup |