Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869122_240869130delinsTTGGGGAGG , CM000664.2:g.240869122_240869130delinsTTGGGGAGG | GRCh38 |
| NC_000002.11:g.241808539_241808547delinsTTGGGGAGG , CM000664.1:g.241808539_241808547delinsTTGGGGAGG | GRCh37 |
| NC_000002.10:g.241457212_241457220delinsTTGGGGAGG | NCBI36 |
| NG_008005.1:g.5378_5386delinsTTGGGGAGG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.166-48_166-40delinsTTGGGGAGG MANE Select | ENSP00000302620.3:n.166-48_166-40delinsTT... | |
| ENST00000307503.3:c.166-48_166-40delinsTTGGGGAGG | ENSP00000302620.3:n.166-48_166-40delinsTT... | |
| ENST00000472436.1:n.186-48_186-40delinsTTGGGGAGG | ||
| NM_000030.2:c.166-48_166-40delinsTTGGGGAGG | NP_000021.1:n.166-48_166-40delinsTTGGGGAG... | |
| XR_924060.1:n.405+1103_405+1111delinsCCTCCCCAA | ||
| NM_000030.3:c.166-48_166-40delinsTTGGGGAGG MANE Select | NP_000021.1:n.166-48_166-40delinsTTGGGGAG... |