Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21010236_21010238delinsCTT , CM000664.2:g.21010236_21010238delinsCTT | GRCh38 |
| NC_000002.11:g.21233108_21233110delinsCTT , CM000664.1:g.21233108_21233110delinsCTT | GRCh37 |
| NC_000002.10:g.21086613_21086615delinsCTT | NCBI36 |
| NG_011793.1:g.38836_38838delinsAAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.6630_6632delinsAAG MANE Select | ENSP00000233242.1:p.Lys2210= | |
| ENST00000616098.4:c.6630_6632delinsAAG | ENSP00000477990.1:p.Lys2210= | |
| NM_000384.2:c.6630_6632delinsAAG | NP_000375.2:p.Lys2210= | |
| XM_011532809.1:c.5869+495_5869+497delinsAAG | XP_011531111.1:n.5869+495_5869+497delinsAAG | |
| NM_000384.3:c.6630_6632delinsAAG MANE Select | NP_000375.3:p.Lys2210= |