Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29071041_29071042insACA , CM000664.2:g.29071041_29071042insACA | GRCh38 |
| NC_000002.11:g.29293907_29293908insACA , CM000664.1:g.29293907_29293908insACA | GRCh37 |
| NC_000002.10:g.29147411_29147412insACA | NCBI36 |
| NG_021427.1:g.8220_8221insTGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.3220_3221insTGT MANE Select | ENSP00000332809.4:p.Pro1074delinsLeuSer | |
| ENST00000331664.5:c.3220_3221insTGT | ENSP00000332809.4:p.Pro1074delinsLeuSer | |
| NM_001029883.2:c.3220_3221insTGT | NP_001025054.1:p.Pro1074delinsLeuSer | |
| XM_011532826.1:c.3220_3221insTGT | XP_011531128.1:p.Pro1074delinsLeuSer | |
| XR_939901.1:n.185+1874_185+1875insACA | ||
| XR_939902.1:n.173+1886_173+1887insACA | ||
| NM_001029883.3:c.3220_3221insTGT MANE Select | NP_001025054.1:p.Pro1074delinsLeuSer |