Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152311343_152311346delinsATGG , CM000663.2:g.152311343_152311346delinsATGG | GRCh38 |
| NC_000001.10:g.152283819_152283822delinsATGG , CM000663.1:g.152283819_152283822delinsATGG | GRCh37 |
| NC_000001.9:g.150550443_150550446delinsATGG | NCBI36 |
| NG_016190.1:g.18858_18861delinsCCAT , LRG_1028:g.18858_18861delinsCCAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.3540_3543delinsCCAT MANE Select | ENSP00000357789.1:p.His1180= | |
| ENST00000368799.1:c.3540_3543delinsCCAT | ENSP00000357789.1:p.His1180= | |
| NM_002016.1:c.3540_3543delinsCCAT , LRG_1028t1:c.3540_3543delinsCCAT | NP_002007.1:p.His1180= | |
| XM_011509329.1:c.3540_3543delinsCCAT | XP_011507631.1:p.His1180= | |
| NM_002016.2:c.3540_3543delinsCCAT MANE Select | NP_002007.1:p.His1180= |