Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48381333dup , CM000675.2:g.48381333dup | GRCh38 |
| NC_000013.10:g.48955469dup , CM000675.1:g.48955469dup | GRCh37 |
| NC_000013.9:g.47853470dup | NCBI36 |
| NG_009009.1:g.82587dup , LRG_517:g.82587dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.1585dup MANE Select | NP_000312.2:p.Tyr529LeufsTer26 |
| ENST00000267163.6:c.1585dup MANE Select | ENSP00000267163.4:p.Tyr529LeufsTer26 |
| NM_000321.2:c.1585dup , LRG_517t1:c.1585dup | NP_000312.2:p.Tyr529LeufsTer26 |
| ENST00000267163.4:c.1585dup | ENSP00000267163.4:p.Tyr529LeufsTer26 |
| ENST00000643064.1:c.84dup | |
| ENST00000650461.1:c.1585dup | ENSP00000497193.1:p.Tyr529LeufsTer26 |
| XM_011535171.1:c.1324dup | XP_011533473.1:p.Tyr442LeufsTer26 |
| XM_011535171.2:c.1324dup | XP_011533473.1:p.Tyr442LeufsTer26 |