Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119670020dup , CM000672.2:g.119670020dup | GRCh38 |
| NC_000010.10:g.121429532dup , CM000672.1:g.121429532dup | GRCh37 |
| NC_000010.9:g.121419522dup | NCBI36 |
| NG_016125.1:g.23651dup , LRG_742:g.23651dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.350dup MANE Select | ENSP00000358081.4:p.Gly118TrpfsTer8 | |
| ENST00000369085.7:c.350dup | ENSP00000358081.3:p.Gly118TrpfsTer8 | |
| ENST00000450186.1:c.176dup | ENSP00000410036.1:p.Gly60TrpfsTer8 | |
| NM_004281.3:c.350dup , LRG_742t1:c.350dup | NP_004272.2:p.Gly118TrpfsTer8 | |
| XM_005270287.1:c.350dup | XP_005270344.1:p.Gly118TrpfsTer8 | |
| XM_005270287.2:c.350dup | XP_005270344.1:p.Gly118TrpfsTer8 | |
| NM_004281.4:c.350dup MANE Select | NP_004272.2:p.Gly118TrpfsTer8 |