Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152310064_152310066delinsCAG , CM000663.2:g.152310064_152310066delinsCAG | GRCh38 |
| NC_000001.10:g.152282540_152282542delinsCAG , CM000663.1:g.152282540_152282542delinsCAG | GRCh37 |
| NC_000001.9:g.150549164_150549166delinsCAG | NCBI36 |
| NG_016190.1:g.20138_20140delinsCTG , LRG_1028:g.20138_20140delinsCTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.4820_4822delinsCTG MANE Select | ENSP00000357789.1:p.Ser1607= | |
| ENST00000368799.1:c.4820_4822delinsCTG | ENSP00000357789.1:p.Ser1607= | |
| NM_002016.1:c.4820_4822delinsCTG , LRG_1028t1:c.4820_4822delinsCTG | NP_002007.1:p.Ser1607= | |
| XM_011509329.1:c.4820_4822delinsCTG | XP_011507631.1:p.Ser1607= | |
| NM_002016.2:c.4820_4822delinsCTG MANE Select | NP_002007.1:p.Ser1607= |