Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63947023_63947024del , CM000679.2:g.63947023_63947024del | GRCh38 |
| NC_000017.10:g.62024383_62024384del , CM000679.1:g.62024383_62024384del | GRCh37 |
| NC_000017.9:g.59378115_59378116del | NCBI36 |
| NG_011699.1:g.30895_30896del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.3441+21_3441+22del MANE Select | ENSP00000396320.1:n.3441+21_3441+22del | |
| ENST00000578147.5:c.3441+21_3441+22del | ENSP00000463963.1:n.3441+21_3441+22del | |
| NM_000334.4:c.3441+21_3441+22del MANE Select | NP_000325.4:n.3441+21_3441+22del | |
| XM_005257566.3:c.3441+21_3441+22del | XP_005257623.1:n.3441+21_3441+22del |