Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869096_240869097delinsAG , CM000664.2:g.240869096_240869097delinsAG | GRCh38 |
| NC_000002.11:g.241808513_241808514delinsAG , CM000664.1:g.241808513_241808514delinsAG | GRCh37 |
| NC_000002.10:g.241457186_241457187delinsAG | NCBI36 |
| NG_008005.1:g.5352_5353delinsAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.165+66_165+67delinsAG MANE Select | ENSP00000302620.3:n.165+66_165+67delinsAG... | |
| ENST00000307503.3:c.165+66_165+67delinsAG | ENSP00000302620.3:n.165+66_165+67delinsAG... | |
| ENST00000472436.1:n.185+66_185+67delinsAG | ||
| NM_000030.2:c.165+66_165+67delinsAG | NP_000021.1:n.165+66_165+67delinsAG | |
| XR_924060.1:n.405+1136_405+1137delinsCT | ||
| NM_000030.3:c.165+66_165+67delinsAG MANE Select | NP_000021.1:n.165+66_165+67delinsAG |