Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18787539_18787541delinsCTG , CM000681.2:g.18787539_18787541delinsCTG | GRCh38 |
| NC_000019.9:g.18898348_18898350delinsCTG , CM000681.1:g.18898348_18898350delinsCTG | GRCh37 |
| NC_000019.8:g.18759348_18759350delinsCTG | NCBI36 |
| NG_007070.1:g.8765_8767delinsCAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1085_1087delinsCAG MANE Select | ENSP00000222271.2:p.Thr362= | |
| ENST00000222271.6:c.1085_1087delinsCAG | ENSP00000222271.2:p.Thr362= | |
| ENST00000425807.1:c.926_928delinsCAG | ENSP00000403792.1:p.Thr309= | |
| ENST00000542601.6:c.986_988delinsCAG | ENSP00000439156.2:p.Thr329= | |
| NM_000095.2:c.1085_1087delinsCAG | NP_000086.2:p.Thr362= | |
| NM_000095.3:c.1085_1087delinsCAG MANE Select | NP_000086.2:p.Thr362= |