Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.16992923_16992926dup , CM000670.2:g.16992923_16992926dup | GRCh38 |
| NC_000008.10:g.16850432_16850435dup , CM000670.1:g.16850432_16850435dup | GRCh37 |
| NC_000008.9:g.16894803_16894806dup | NCBI36 |
| NG_015978.1:g.14244_14247dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000180166.6:c.*150_*153dup MANE Select | ENSP00000180166.5:n.*150_*153dup | |
| ENST00000180166.5:c.*150_*153dup | ENSP00000180166.5:n.*150_*153dup | |
| NM_019851.2:c.*150_*153dup | NP_062825.1:n.*150_*153dup | |
| NM_019851.3:c.*150_*153dup MANE Select | NP_062825.1:n.*150_*153dup |