Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47286419_47286420del , CM000679.2:g.47286419_47286420del | GRCh38 |
| NC_000017.10:g.45363785_45363786del , CM000679.1:g.45363785_45363786del | GRCh37 |
| NC_000017.9:g.42718784_42718785del | NCBI36 |
| NG_008332.2:g.37578_37579del , LRG_481:g.37578_37579del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.774_775del | ENSP00000513002.1:p.Cys258Ter | |
| ENST00000559488.7:c.774_775del MANE Select | ENSP00000452786.2:p.Cys258Ter | |
| ENST00000559488.5:c.774_775del | ENSP00000452786.1:p.Cys258Ter | |
| ENST00000560629.1:c.739_740del | ||
| ENST00000571680.1:c.774_775del | ENSP00000461626.1:p.Cys258Ter | |
| NM_000212.2:c.774_775del , LRG_481t1:c.774_775del | NP_000203.2:p.Cys258Ter | |
| NM_000212.3:c.774_775del MANE Select | NP_000203.2:p.Cys258Ter |