Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.45461786_45461787delinsCT , CM000667.2:g.45461786_45461787delinsCT | GRCh38 |
| NC_000005.9:g.45461888_45461889delinsCT , CM000667.1:g.45461888_45461889delinsCT | GRCh37 |
| NC_000005.8:g.45497645_45497646delinsCT | NCBI36 |
| NG_042183.1:g.239332_239333delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303230.6:c.1011+59_1011+60delinsAG MANE Select | ENSP00000307342.4:n.1011+59_1011+60delinsAG | |
| ENST00000637305.1:n.174+59_174+60delinsAG | ||
| ENST00000673735.1:c.1011+59_1011+60delinsAG | ENSP00000501107.1:n.1011+59_1011+60delinsAG | |
| ENST00000303230.5:c.1011+59_1011+60delinsAG | ENSP00000307342.4:n.1011+59_1011+60delinsAG | |
| NM_021072.3:c.1011+59_1011+60delinsAG | NP_066550.2:n.1011+59_1011+60delinsAG | |
| NM_021072.4:c.1011+59_1011+60delinsAG MANE Select | NP_066550.2:n.1011+59_1011+60delinsAG |