Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152308856_152308859delinsCTGG , CM000663.2:g.152308856_152308859delinsCTGG | GRCh38 |
| NC_000001.10:g.152281332_152281335delinsCTGG , CM000663.1:g.152281332_152281335delinsCTGG | GRCh37 |
| NC_000001.9:g.150547956_150547959delinsCTGG | NCBI36 |
| NG_016190.1:g.21345_21348delinsCCAG , LRG_1028:g.21345_21348delinsCCAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.6027_6030delinsCCAG MANE Select | ENSP00000357789.1:p.His2009= | |
| ENST00000368799.1:c.6027_6030delinsCCAG | ENSP00000357789.1:p.His2009= | |
| NM_002016.1:c.6027_6030delinsCCAG , LRG_1028t1:c.6027_6030delinsCCAG | NP_002007.1:p.His2009= | |
| XM_011509329.1:c.6027_6030delinsCCAG | XP_011507631.1:p.His2009= | |
| NM_002016.2:c.6027_6030delinsCCAG MANE Select | NP_002007.1:p.His2009= |