Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868989_240868990insCCCC , CM000664.2:g.240868989_240868990insCCCC | GRCh38 |
| NC_000002.11:g.241808406_241808407insCCCC , CM000664.1:g.241808406_241808407insCCCC | GRCh37 |
| NC_000002.10:g.241457079_241457080insCCCC | NCBI36 |
| NG_008005.1:g.5245_5246insCCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.124_125insCCCC MANE Select | ENSP00000302620.3:p.Gly42AlafsTer? | |
| ENST00000307503.3:c.124_125insCCCC | ENSP00000302620.3:p.Gly42AlafsTer? | |
| ENST00000472436.1:n.144_145insCCCC | ||
| NM_000030.2:c.124_125insCCCC | NP_000021.1:p.Gly42AlafsTer? | |
| XR_924060.1:n.405+1243_405+1244insGGGG | ||
| NM_000030.3:c.124_125insCCCC MANE Select | NP_000021.1:p.Gly42AlafsTer? |