Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235977934dup , CM000663.2:g.235977934dup | GRCh38 |
| NC_000001.10:g.236141234dup , CM000663.1:g.236141234dup | GRCh37 |
| NC_000001.9:g.234207857dup | NCBI36 |
| NG_033228.1:g.92251dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002508.3:c.3680dup MANE Select | NP_002499.2:p.Gly1228ArgfsTer9 |
| ENST00000264187.7:c.3680dup MANE Select | ENSP00000264187.6:p.Gly1228ArgfsTer9 |
| NM_002508.2:c.3680dup | NP_002499.2:p.Gly1228ArgfsTer9 |
| ENST00000264187.6:c.3680dup | ENSP00000264187.6:p.Gly1228ArgfsTer9 |
| ENST00000366595.7:c.3281dup | ENSP00000355554.3:p.Gly1095ArgfsTer9 |
| XM_011544195.1:c.3554dup | XP_011542497.1:p.Gly1186ArgfsTer9 |
| XM_011544195.3:c.3554dup | XP_011542497.1:p.Gly1186ArgfsTer9 |