Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.68829971_68829972delinsCG , CM000685.2:g.68829971_68829972delinsCG | GRCh38 |
| NC_000023.10:g.68049814_68049815delinsCG , CM000685.1:g.68049814_68049815delinsCG | GRCh37 |
| NC_000023.9:g.67966539_67966540delinsCG | NCBI36 |
| NG_008887.1:g.5975_5976delinsCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000204961.5:c.128+67_128+68delinsCG MANE Select | ENSP00000204961.4:n.128+67_128+68delinsCG | |
| ENST00000204961.4:c.128+67_128+68delinsCG | ENSP00000204961.4:n.128+67_128+68delinsCG | |
| NM_004429.4:c.128+67_128+68delinsCG | NP_004420.1:n.128+67_128+68delinsCG | |
| NM_004429.5:c.128+67_128+68delinsCG MANE Select | NP_004420.1:n.128+67_128+68delinsCG |