Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32443941_32443942delinsAG , CM000668.2:g.32443941_32443942delinsAG | GRCh38 |
| NC_000006.11:g.32411718_32411719delinsAG , CM000668.1:g.32411718_32411719delinsAG | GRCh37 |
| NC_000006.10:g.32519696_32519697delinsAG | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395388.7:c.*11+20_*11+21delinsAG MANE Select | ENSP00000378786.2:n.*11+20_*11+21delinsAG | |
| ENST00000374982.5:c.*11+20_*11+21delinsAG | ENSP00000364121.5:n.*11+20_*11+21delinsAG | |
| ENST00000395388.6:c.*11+20_*11+21delinsAG | ENSP00000378786.2:n.*11+20_*11+21delinsAG | |
| NM_019111.4:c.*11+20_*11+21delinsAG | NP_061984.2:n.*11+20_*11+21delinsAG | |
| NM_019111.5:c.*11+20_*11+21delinsAG MANE Select | NP_061984.2:n.*11+20_*11+21delinsAG |