Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.68829945_68829946insG , CM000685.2:g.68829945_68829946insG | GRCh38 |
| NC_000023.10:g.68049788_68049789insG , CM000685.1:g.68049788_68049789insG | GRCh37 |
| NC_000023.9:g.67966513_67966514insG | NCBI36 |
| NG_008887.1:g.5949_5950insG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000204961.5:c.128+41_128+42insG MANE Select | ENSP00000204961.4:n.128+41_128+42insG | |
| ENST00000204961.4:c.128+41_128+42insG | ENSP00000204961.4:n.128+41_128+42insG | |
| NM_004429.4:c.128+41_128+42insG | NP_004420.1:n.128+41_128+42insG | |
| NM_004429.5:c.128+41_128+42insG MANE Select | NP_004420.1:n.128+41_128+42insG |