Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42911369_42911372delinsTGTC , CM000679.2:g.42911369_42911372delinsTGTC | GRCh38 |
| NC_000017.10:g.41063386_41063389delinsTGTC , CM000679.1:g.41063386_41063389delinsTGTC | GRCh37 |
| NC_000017.9:g.38316912_38316915delinsTGTC | NCBI36 |
| NG_011808.1:g.15572_15575delinsTGTC , LRG_147:g.15572_15575delinsTGTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.1017_1020delinsTGTC MANE Select | ENSP00000253801.1:p.Ser339= | |
| ENST00000253801.6:c.1017_1020delinsTGTC | ENSP00000253801.1:p.Ser339= | |
| ENST00000585489.1:c.*409_*412delinsTGTC | ENSP00000466202.1:n.*409_*412delinsTGTC | |
| NM_000151.3:c.1017_1020delinsTGTC | NP_000142.2:p.Ser339= | |
| NM_001270397.1:c.*409_*412delinsTGTC | NP_001257326.1:n.*409_*412delinsTGTC | |
| NM_000151.4:c.1017_1020delinsTGTC MANE Select | NP_000142.2:p.Ser339= | |
| NM_001270397.2:c.*409_*412delinsTGTC | NP_001257326.1:n.*409_*412delinsTGTC |