Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.21845336_21845339delinsATCT , CM000685.2:g.21845336_21845339delinsATCT | GRCh38 |
| NC_000023.10:g.21863454_21863457delinsATCT , CM000685.1:g.21863454_21863457delinsATCT | GRCh37 |
| NC_000023.9:g.21773375_21773378delinsATCT | NCBI36 |
| NG_012797.1:g.10799_10802delinsATCT | |
| NG_012797.2:g.10799_10802delinsATCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379484.10:c.390_393delinsATCT MANE Select | ENSP00000368798.5:p.Ser130= | |
| ENST00000365779.2:c.390_393delinsATCT | ENSP00000368796.1:p.Ser130= | |
| ENST00000379484.9:c.390_393delinsATCT | ENSP00000368798.5:p.Ser130= | |
| ENST00000465888.1:n.489_492delinsATCT | ||
| NM_015884.3:c.390_393delinsATCT | NP_056968.1:p.Ser130= | |
| NM_015884.4:c.390_393delinsATCT MANE Select | NP_056968.1:p.Ser130= |