Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225607_5225608delinsCT , CM000673.2:g.5225607_5225608delinsCT | GRCh38 |
| NC_000011.9:g.5246837_5246838delinsCT , CM000673.1:g.5246837_5246838delinsCT | GRCh37 |
| NC_000011.8:g.5203413_5203414delinsCT | NCBI36 |
| NG_000007.3:g.72008_72009delinsAG | |
| NG_059281.1:g.6464_6465delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.434_435delinsAG | ENSP00000494175.1:p.Lys145= | |
| ENST00000335295.4:c.434_435delinsAG MANE Select | ENSP00000333994.3:p.Lys145= | |
| ENST00000633227.1:c.*250_*251delinsAG | ENSP00000488004.1:n.*250_*251delinsAG | |
| NM_000518.4:c.434_435delinsAG | NP_000509.1:p.Lys145= | |
| NM_000518.5:c.434_435delinsAG MANE Select | NP_000509.1:p.Lys145= |