Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52028063_52028065delinsCTT , CM000666.2:g.52028063_52028065delinsCTT | GRCh38 |
| NC_000004.11:g.52894229_52894231delinsCTT , CM000666.1:g.52894229_52894231delinsCTT | GRCh37 |
| NC_000004.10:g.52588986_52588988delinsCTT | NCBI36 |
| NG_008891.1:g.15255_15257delinsAAG , LRG_204:g.15255_15257delinsAAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.656_658delinsAAG MANE Select | ENSP00000370839.6:p.Lys219= | |
| ENST00000381431.9:c.656_658delinsAAG | ENSP00000370839.5:p.Lys219= | |
| NM_000232.4:c.656_658delinsAAG , LRG_204t1:c.656_658delinsAAG | NP_000223.1:p.Lys219= | |
| XM_006714049.2:c.359_361delinsAAG | XP_006714112.1:p.Lys120= | |
| XM_011534403.1:c.446_448delinsAAG | XP_011532705.1:p.Lys149= | |
| XM_011534404.1:c.359_361delinsAAG | XP_011532706.1:p.Lys120= | |
| NM_000232.5:c.656_658delinsAAG MANE Select | NP_000223.1:p.Lys219= |