Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160139638_160139639del , CM000663.2:g.160139638_160139639del | GRCh38 |
| NC_000001.10:g.160109428_160109429del , CM000663.1:g.160109428_160109429del | GRCh37 |
| NC_000001.9:g.158376052_158376053del | NCBI36 |
| NG_008014.1:g.28881_28882del , LRG_6:g.28881_28882del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361216.8:c.2841-2_2841-1del MANE Select | ENSP00000354490.3:n.2841-2_2841-1del | |
| ENST00000361216.7:c.2841-2_2841-1del | ENSP00000354490.3:n.2841-2_2841-1del | |
| ENST00000392233.7:c.2841-2_2841-1del | ENSP00000376066.3:n.2841-2_2841-1del | |
| ENST00000447527.1:c.1922-2_1922-1del | ||
| ENST00000463989.1:n.177-2_177-1del | ||
| NM_000702.3:c.2841-2_2841-1del | NP_000693.1:n.2841-2_2841-1del | |
| NM_000702.4:c.2841-2_2841-1del MANE Select | NP_000693.1:n.2841-2_2841-1del |