Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152304757_152304758delinsCT , CM000663.2:g.152304757_152304758delinsCT | GRCh38 |
| NC_000001.10:g.152277233_152277234delinsCT , CM000663.1:g.152277233_152277234delinsCT | GRCh37 |
| NC_000001.9:g.150543857_150543858delinsCT | NCBI36 |
| NG_016190.1:g.25446_25447delinsAG , LRG_1028:g.25446_25447delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.10128_10129delinsAG MANE Select | ENSP00000357789.1:p.Ser3376= | |
| ENST00000368799.1:c.10128_10129delinsAG | ENSP00000357789.1:p.Ser3376= | |
| NM_002016.1:c.10128_10129delinsAG , LRG_1028t1:c.10128_10129delinsAG | NP_002007.1:p.Ser3376= | |
| XM_011509329.1:c.9109-925_9109-924delinsAG | XP_011507631.1:n.9109-925_9109-924delinsAG | |
| NM_002016.2:c.10128_10129delinsAG MANE Select | NP_002007.1:p.Ser3376= |