Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41745930_41745948dup , CM000666.2:g.41745930_41745948dup | GRCh38 |
| NC_000004.11:g.41747947_41747965dup , CM000666.1:g.41747947_41747965dup | GRCh37 |
| NC_000004.10:g.41442704_41442722dup | NCBI36 |
| NG_008243.1:g.8026_8044dup , LRG_513:g.8026_8044dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.807_825dup MANE Select | ENSP00000226382.2:p.Gly276TrpfsTer? | |
| ENST00000226382.3:c.807_825dup | ENSP00000226382.2:p.Gly276TrpfsTer? | |
| NM_003924.3:c.807_825dup , LRG_513t1:c.807_825dup | NP_003915.2:p.Gly276TrpfsTer? | |
| NM_003924.4:c.807_825dup MANE Select | NP_003915.2:p.Gly276TrpfsTer? |