Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29071028_29071029insACA , CM000664.2:g.29071028_29071029insACA | GRCh38 |
| NC_000002.11:g.29293894_29293895insACA , CM000664.1:g.29293894_29293895insACA | GRCh37 |
| NC_000002.10:g.29147398_29147399insACA | NCBI36 |
| NG_021427.1:g.8233_8234insTGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.3233_3234insTGT MANE Select | ENSP00000332809.4:p.Pro1078_Glu1079insVal | |
| ENST00000331664.5:c.3233_3234insTGT | ENSP00000332809.4:p.Pro1078_Glu1079insVal | |
| NM_001029883.2:c.3233_3234insTGT | NP_001025054.1:p.Pro1078_Glu1079insVal | |
| XM_011532826.1:c.3233_3234insTGT | XP_011531128.1:p.Pro1078_Glu1079insVal | |
| XR_939901.1:n.185+1861_185+1862insACA | ||
| XR_939902.1:n.173+1873_173+1874insACA | ||
| NM_001029883.3:c.3233_3234insTGT MANE Select | NP_001025054.1:p.Pro1078_Glu1079insVal |