Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.21743795dup , CM000685.2:g.21743795dup | GRCh38 |
| NC_000023.10:g.21761913dup , CM000685.1:g.21761913dup | GRCh37 |
| NC_000023.9:g.21671834dup | NCBI36 |
| NG_031916.1:g.19366dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014332.3:c.87dup MANE Select | NP_055147.1:p.Gly30ArgfsTer12 |
| ENST00000379494.4:c.87dup MANE Select | ENSP00000368808.3:p.Gly30ArgfsTer12 |
| NM_014332.2:c.87dup | NP_055147.1:p.Gly30ArgfsTer12 |
| NR_045617.1:n.318dup | |
| NR_045617.2:n.274dup | |
| ENST00000379494.3:c.87dup | ENSP00000368808.3:p.Gly30ArgfsTer12 |
| ENST00000494525.1:n.180dup | |
| ENST00000646008.1:c.87dup | ENSP00000493671.1:p.Gly30ArgfsTer12 |