Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869101_240869102delinsAG , CM000664.2:g.240869101_240869102delinsAG | GRCh38 |
| NC_000002.11:g.241808518_241808519delinsAG , CM000664.1:g.241808518_241808519delinsAG | GRCh37 |
| NC_000002.10:g.241457191_241457192delinsAG | NCBI36 |
| NG_008005.1:g.5357_5358delinsAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.166-69_166-68delinsAG MANE Select | ENSP00000302620.3:n.166-69_166-68delinsAG... | |
| ENST00000307503.3:c.166-69_166-68delinsAG | ENSP00000302620.3:n.166-69_166-68delinsAG... | |
| ENST00000472436.1:n.186-69_186-68delinsAG | ||
| NM_000030.2:c.166-69_166-68delinsAG | NP_000021.1:n.166-69_166-68delinsAG | |
| XR_924060.1:n.405+1131_405+1132delinsCT | ||
| NM_000030.3:c.166-69_166-68delinsAG MANE Select | NP_000021.1:n.166-69_166-68delinsAG |