Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41745975_41745995del , CM000666.2:g.41745975_41745995del | GRCh38 |
| NC_000004.11:g.41747992_41748012del , CM000666.1:g.41747992_41748012del | GRCh37 |
| NC_000004.10:g.41442749_41442769del | NCBI36 |
| NG_008243.1:g.7978_7998del , LRG_513:g.7978_7998del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.759_779del MANE Select | ENSP00000226382.2:p.Ala254_Ala260del | |
| ENST00000226382.3:c.759_779del | ENSP00000226382.2:p.Ala254_Ala260del | |
| NM_003924.3:c.759_779del , LRG_513t1:c.759_779del | NP_003915.2:p.Ala254_Ala260del | |
| NM_003924.4:c.759_779del MANE Select | NP_003915.2:p.Ala254_Ala260del |