Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41745952_41745953del , CM000666.2:g.41745952_41745953del | GRCh38 |
| NC_000004.11:g.41747969_41747970del , CM000666.1:g.41747969_41747970del | GRCh37 |
| NC_000004.10:g.41442726_41442727del | NCBI36 |
| NG_008243.1:g.8021_8022del , LRG_513:g.8021_8022del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.802_803del MANE Select | ENSP00000226382.2:p.Gly268ProfsTer? | |
| ENST00000226382.3:c.802_803del | ENSP00000226382.2:p.Gly268ProfsTer? | |
| NM_003924.3:c.802_803del , LRG_513t1:c.802_803del | NP_003915.2:p.Gly268ProfsTer? | |
| NM_003924.4:c.802_803del MANE Select | NP_003915.2:p.Gly268ProfsTer? |