Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29071025_29071026insACA , CM000664.2:g.29071025_29071026insACA | GRCh38 |
| NC_000002.11:g.29293891_29293892insACA , CM000664.1:g.29293891_29293892insACA | GRCh37 |
| NC_000002.10:g.29147395_29147396insACA | NCBI36 |
| NG_021427.1:g.8236_8237insTGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.3236_3237insTGT MANE Select | ENSP00000332809.4:p.Glu1079delinsAspVal | |
| ENST00000331664.5:c.3236_3237insTGT | ENSP00000332809.4:p.Glu1079delinsAspVal | |
| NM_001029883.2:c.3236_3237insTGT | NP_001025054.1:p.Glu1079delinsAspVal | |
| XM_011532826.1:c.3236_3237insTGT | XP_011531128.1:p.Glu1079delinsAspVal | |
| XR_939901.1:n.185+1858_185+1859insACA | ||
| XR_939902.1:n.173+1870_173+1871insACA | ||
| NM_001029883.3:c.3236_3237insTGT MANE Select | NP_001025054.1:p.Glu1079delinsAspVal |