Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29071073_29071075delinsACT , CM000664.2:g.29071073_29071075delinsACT | GRCh38 |
| NC_000002.11:g.29293939_29293941delinsACT , CM000664.1:g.29293939_29293941delinsACT | GRCh37 |
| NC_000002.10:g.29147443_29147445delinsACT | NCBI36 |
| NG_021427.1:g.8187_8189delinsAGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.3187_3189delinsAGT MANE Select | ENSP00000332809.4:p.Ser1063= | |
| ENST00000331664.5:c.3187_3189delinsAGT | ENSP00000332809.4:p.Ser1063= | |
| NM_001029883.2:c.3187_3189delinsAGT | NP_001025054.1:p.Ser1063= | |
| XM_011532826.1:c.3187_3189delinsAGT | XP_011531128.1:p.Ser1063= | |
| XR_939901.1:n.185+1906_185+1908delinsACT | ||
| XR_939902.1:n.173+1918_173+1920delinsACT | ||
| NM_001029883.3:c.3187_3189delinsAGT MANE Select | NP_001025054.1:p.Ser1063= |