Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2274761_2274762delinsAG , CM000681.2:g.2274761_2274762delinsAG | GRCh38 |
| NC_000019.9:g.2274760_2274761delinsAG , CM000681.1:g.2274760_2274761delinsAG | GRCh37 |
| NC_000019.8:g.2225760_2225761delinsAG | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342063.5:c.*918_*919delinsCT MANE Select | ENSP00000345102.3:n.*918_*919delinsCT | |
| ENST00000342063.4:c.*918_*919delinsCT | ENSP00000345102.3:n.*918_*919delinsCT | |
| ENST00000621615.1:c.146+5017_146+5018delinsAG | ENSP00000481965.1:n.146+5017_146+5018delinsAG | |
| NM_198532.2:c.*918_*919delinsCT | NP_940934.1:n.*918_*919delinsCT | |
| NM_198532.3:c.*918_*919delinsCT MANE Select | NP_940934.1:n.*918_*919delinsCT |