Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571696_154571697insA , CM000663.2:g.154571696_154571697insA | GRCh38 |
| NC_000001.10:g.154544172_154544173insA , CM000663.1:g.154544172_154544173insA | GRCh37 |
| NC_000001.9:g.152810796_152810797insA | NCBI36 |
| NG_008027.1:g.8916_8917insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.873_874insA MANE Select | ENSP00000357461.3:p.Leu292ThrfsTer? | |
| ENST00000636034.1:c.873_874insA | ENSP00000489703.1:p.Leu292ThrfsTer? | |
| ENST00000637900.1:c.879_880insA | ENSP00000490474.1:p.Leu294ThrfsTer? | |
| ENST00000368476.3:c.873_874insA | ENSP00000357461.3:p.Leu292ThrfsTer? | |
| NM_000748.2:c.873_874insA | NP_000739.1:p.Leu292ThrfsTer? | |
| XM_017000180.2:c.363_364insA | XP_016855669.1:p.Leu122ThrfsTer? | |
| XR_001736952.2:n.1125_1126insA | ||
| NM_000748.3:c.873_874insA MANE Select | NP_000739.1:p.Leu292ThrfsTer? |