Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.21845327_21845333delinsCTCTTCT , CM000685.2:g.21845327_21845333delinsCTCTTCT | GRCh38 |
| NC_000023.10:g.21863445_21863451delinsCTCTTCT , CM000685.1:g.21863445_21863451delinsCTCTTCT | GRCh37 |
| NC_000023.9:g.21773366_21773372delinsCTCTTCT | NCBI36 |
| NG_012797.1:g.10790_10796delinsCTCTTCT | |
| NG_012797.2:g.10790_10796delinsCTCTTCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379484.10:c.381_387delinsCTCTTCT MANE Select | ENSP00000368798.5:p.Ser127= | |
| ENST00000365779.2:c.381_387delinsCTCTTCT | ENSP00000368796.1:p.Ser127= | |
| ENST00000379484.9:c.381_387delinsCTCTTCT | ENSP00000368798.5:p.Ser127= | |
| ENST00000465888.1:n.480_486delinsCTCTTCT | ||
| NM_015884.3:c.381_387delinsCTCTTCT | NP_056968.1:p.Ser127= | |
| NM_015884.4:c.381_387delinsCTCTTCT MANE Select | NP_056968.1:p.Ser127= |