Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32443908_32443911delinsTAAG , CM000668.2:g.32443908_32443911delinsTAAG | GRCh38 |
| NC_000006.11:g.32411685_32411688delinsTAAG , CM000668.1:g.32411685_32411688delinsTAAG | GRCh37 |
| NC_000006.10:g.32519663_32519666delinsTAAG | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395388.7:c.763_*1delinsTAAG MANE Select | ENSP00000378786.2:n.[c.763_*1delinsTAAG;Ter255=] | |
| ENST00000374982.5:c.688_*1delinsTAAG | ENSP00000364121.5:n.[c.688_*1delinsTAAG;Ter230=] | |
| ENST00000395388.6:c.763_*1delinsTAAG | ENSP00000378786.2:n.[c.763_*1delinsTAAG;Ter255=] | |
| NM_019111.4:c.763_*1delinsTAAG | NP_061984.2:n.[c.763_*1delinsTAAG;Ter255=] | |
| NM_019111.5:c.763_*1delinsTAAG MANE Select | NP_061984.2:n.[c.763_*1delinsTAAG;Ter255=] |