Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6770374dup , CM000682.2:g.6770374dup | GRCh38 |
| NC_000020.10:g.6751021dup , CM000682.1:g.6751021dup | GRCh37 |
| NC_000020.9:g.6699021dup | NCBI36 |
| NG_023233.1:g.7277dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378827.5:c.248dup MANE Select | ENSP00000368104.3:p.Tyr83Ter | |
| ENST00000378827.4:c.248dup | ENSP00000368104.3:p.Tyr83Ter | |
| NM_001200.2:c.248dup | NP_001191.1:p.Tyr83Ter | |
| XM_011529323.1:c.-123+1499dup | XP_011527625.1:n.-123+1499dup | |
| NM_001200.3:c.248dup | NP_001191.1:p.Tyr83Ter | |
| NM_001200.4:c.248dup MANE Select | NP_001191.1:p.Tyr83Ter |