Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115768330del , CM000663.2:g.115768330del | GRCh38 |
| NC_000001.10:g.116310951del , CM000663.1:g.116310951del | GRCh37 |
| NC_000001.9:g.116112474del | NCBI36 |
| NG_008802.1:g.5477del , LRG_404:g.5477del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001232.4:c.213del MANE Select | NP_001223.2:p.Gln71HisfsTer2 |
| ENST00000261448.6:c.213del MANE Select | ENSP00000261448.5:p.Gln71HisfsTer2 |
| NM_001232.3:c.213del , LRG_404t1:c.213del | NP_001223.2:p.Gln71HisfsTer2 |
| ENST00000261448.5:c.213del | ENSP00000261448.5:p.Gln71HisfsTer2 |
| ENST00000488931.2:c.-64del | ENSP00000518226.1:n.-64del |