Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869099_240869102delinsGAAG , CM000664.2:g.240869099_240869102delinsGAAG | GRCh38 |
| NC_000002.11:g.241808516_241808519delinsGAAG , CM000664.1:g.241808516_241808519delinsGAAG | GRCh37 |
| NC_000002.10:g.241457189_241457192delinsGAAG | NCBI36 |
| NG_008005.1:g.5355_5358delinsGAAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.165+69_166-68delinsGAAG MANE Select | ENSP00000302620.3:n.165+69_166-68delinsGA... | |
| ENST00000307503.3:c.165+69_166-68delinsGAAG | ENSP00000302620.3:n.165+69_166-68delinsGA... | |
| ENST00000472436.1:n.185+69_186-68delinsGAAG | ||
| NM_000030.2:c.165+69_166-68delinsGAAG | NP_000021.1:n.165+69_166-68delinsGAAG | |
| XR_924060.1:n.405+1131_405+1134delinsCTTC | ||
| NM_000030.3:c.165+69_166-68delinsGAAG MANE Select | NP_000021.1:n.165+69_166-68delinsGAAG |