Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240877534_240877536delinsCAG , CM000664.2:g.240877534_240877536delinsCAG | GRCh38 |
| NC_000002.11:g.241816951_241816953delinsCAG , CM000664.1:g.241816951_241816953delinsCAG | GRCh37 |
| NC_000002.10:g.241465624_241465626delinsCAG | NCBI36 |
| NG_008005.1:g.13790_13792delinsCAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.847-3_847-1delinsCAG MANE Select | ENSP00000302620.3:n.847-3_847-1delinsCAG | |
| ENST00000307503.3:c.847-3_847-1delinsCAG | ENSP00000302620.3:n.847-3_847-1delinsCAG | |
| ENST00000470255.1:n.622_624delinsCAG | ||
| NM_000030.2:c.847-3_847-1delinsCAG | NP_000021.1:n.847-3_847-1delinsCAG | |
| NM_000030.3:c.847-3_847-1delinsCAG MANE Select | NP_000021.1:n.847-3_847-1delinsCAG |