Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29070996_29070997insACA , CM000664.2:g.29070996_29070997insACA | GRCh38 |
| NC_000002.11:g.29293862_29293863insACA , CM000664.1:g.29293862_29293863insACA | GRCh37 |
| NC_000002.10:g.29147366_29147367insACA | NCBI36 |
| NG_021427.1:g.8265_8266insTGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.3265_3266insTGT MANE Select | ENSP00000332809.4:p.Pro1089delinsLeuSer | |
| ENST00000331664.5:c.3265_3266insTGT | ENSP00000332809.4:p.Pro1089delinsLeuSer | |
| NM_001029883.2:c.3265_3266insTGT | NP_001025054.1:p.Pro1089delinsLeuSer | |
| XM_011532826.1:c.3265_3266insTGT | XP_011531128.1:p.Pro1089delinsLeuSer | |
| XR_939901.1:n.185+1829_185+1830insACA | ||
| XR_939902.1:n.173+1841_173+1842insACA | ||
| NM_001029883.3:c.3265_3266insTGT MANE Select | NP_001025054.1:p.Pro1089delinsLeuSer |