Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41746008_41746025del , CM000666.2:g.41746008_41746025del | GRCh38 |
| NC_000004.11:g.41748025_41748042del , CM000666.1:g.41748025_41748042del | GRCh37 |
| NC_000004.10:g.41442782_41442799del | NCBI36 |
| NG_008243.1:g.7960_7977del , LRG_513:g.7960_7977del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.741_758del MANE Select | ENSP00000226382.2:p.Ala248_Ala253del | |
| ENST00000226382.3:c.741_758del | ENSP00000226382.2:p.Ala248_Ala253del | |
| NM_003924.3:c.741_758del , LRG_513t1:c.741_758del | NP_003915.2:p.Ala248_Ala253del | |
| NM_003924.4:c.741_758del MANE Select | NP_003915.2:p.Ala248_Ala253del |