Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869121_240869129delinsCTTGGGGAG , CM000664.2:g.240869121_240869129delinsCTTGGGGAG | GRCh38 |
| NC_000002.11:g.241808538_241808546delinsCTTGGGGAG , CM000664.1:g.241808538_241808546delinsCTTGGGGAG | GRCh37 |
| NC_000002.10:g.241457211_241457219delinsCTTGGGGAG | NCBI36 |
| NG_008005.1:g.5377_5385delinsCTTGGGGAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.166-49_166-41delinsCTTGGGGAG MANE Select | ENSP00000302620.3:n.166-49_166-41delinsCT... | |
| ENST00000307503.3:c.166-49_166-41delinsCTTGGGGAG | ENSP00000302620.3:n.166-49_166-41delinsCT... | |
| ENST00000472436.1:n.186-49_186-41delinsCTTGGGGAG | ||
| NM_000030.2:c.166-49_166-41delinsCTTGGGGAG | NP_000021.1:n.166-49_166-41delinsCTTGGGGA... | |
| XR_924060.1:n.405+1104_405+1112delinsCTCCCCAAG | ||
| NM_000030.3:c.166-49_166-41delinsCTTGGGGAG MANE Select | NP_000021.1:n.166-49_166-41delinsCTTGGGGA... |