Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571476_154571483dup , CM000663.2:g.154571476_154571483dup | GRCh38 |
| NC_000001.10:g.154543952_154543959dup , CM000663.1:g.154543952_154543959dup | GRCh37 |
| NC_000001.9:g.152810576_152810583dup | NCBI36 |
| NG_008027.1:g.8696_8703dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.653_660dup MANE Select | ENSP00000357461.3:p.Tyr221ThrfsTer? | |
| ENST00000636034.1:c.653_660dup | ENSP00000489703.1:p.Tyr221ThrfsTer? | |
| ENST00000637900.1:c.659_666dup | ENSP00000490474.1:p.Tyr223ThrfsTer? | |
| ENST00000368476.3:c.653_660dup | ENSP00000357461.3:p.Tyr221ThrfsTer? | |
| NM_000748.2:c.653_660dup | NP_000739.1:p.Tyr221ThrfsTer? | |
| XM_017000180.2:c.143_150dup | XP_016855669.1:p.Tyr51ThrfsTer? | |
| XR_001736952.2:n.905_912dup | ||
| NM_000748.3:c.653_660dup MANE Select | NP_000739.1:p.Tyr221ThrfsTer? |