Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29073032_29073033delinsCT , CM000664.2:g.29073032_29073033delinsCT | GRCh38 |
| NC_000002.11:g.29295898_29295899delinsCT , CM000664.1:g.29295898_29295899delinsCT | GRCh37 |
| NC_000002.10:g.29149402_29149403delinsCT | NCBI36 |
| NG_021427.1:g.6229_6230delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.1229_1230delinsAG MANE Select | ENSP00000332809.4:p.Gln410= | |
| ENST00000331664.5:c.1229_1230delinsAG | ENSP00000332809.4:p.Gln410= | |
| NM_001029883.2:c.1229_1230delinsAG | NP_001025054.1:p.Gln410= | |
| XM_011532826.1:c.1229_1230delinsAG | XP_011531128.1:p.Gln410= | |
| XR_939901.1:n.185+3865_185+3866delinsCT | ||
| XR_939902.1:n.173+3877_173+3878delinsCT | ||
| NM_001029883.3:c.1229_1230delinsAG MANE Select | NP_001025054.1:p.Gln410= |