Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.140195559_140195560dup , CM000665.2:g.140195559_140195560dup | GRCh38 |
| NC_000003.11:g.139914401_139914402dup , CM000665.1:g.139914401_139914402dup | GRCh37 |
| NC_000003.10:g.141397091_141397092dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000458420.7:c.232+19486_232+19487dup MANE Select | ENSP00000402460.2:n.232+19486_232+19487dup | |
| ENST00000511524.1:n.420+19486_420+19487dup | ||
| NM_022131.2:c.232+19486_232+19487dup | NP_071414.2:n.232+19486_232+19487dup | |
| XM_017007022.2:c.157+19486_157+19487dup | XP_016862511.1:n.157+19486_157+19487dup | |
| NM_022131.3:c.232+19486_232+19487dup MANE Select | NP_071414.2:n.232+19486_232+19487dup |