Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41746021_41746037dup , CM000666.2:g.41746021_41746037dup | GRCh38 |
| NC_000004.11:g.41748038_41748054dup , CM000666.1:g.41748038_41748054dup | GRCh37 |
| NC_000004.10:g.41442795_41442811dup | NCBI36 |
| NG_008243.1:g.7941_7957dup , LRG_513:g.7941_7957dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.722_738dup MANE Select | ENSP00000226382.2:p.Ala247GlnfsTer? | |
| ENST00000226382.3:c.722_738dup | ENSP00000226382.2:p.Ala247GlnfsTer? | |
| NM_003924.3:c.722_738dup , LRG_513t1:c.722_738dup | NP_003915.2:p.Ala247GlnfsTer? | |
| NM_003924.4:c.722_738dup MANE Select | NP_003915.2:p.Ala247GlnfsTer? |