Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.21845312_21845330delinsCTCTTCTTCCTCTTCCTCT , CM000685.2:g.21845312_21845330delinsCTCTTCTTCCTCTTCCTCT | GRCh38 |
| NC_000023.10:g.21863430_21863448delinsCTCTTCTTCCTCTTCCTCT , CM000685.1:g.21863430_21863448delinsCTCTTCTTCCTCTTCCTCT | GRCh37 |
| NC_000023.9:g.21773351_21773369delinsCTCTTCTTCCTCTTCCTCT | NCBI36 |
| NG_012797.1:g.10775_10793delinsCTCTTCTTCCTCTTCCTCT | |
| NG_012797.2:g.10775_10793delinsCTCTTCTTCCTCTTCCTCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379484.10:c.366_384delinsCTCTTCTTCCTCTTCCTCT MANE Select | ENSP00000368798.5:p.Ser122= | |
| ENST00000365779.2:c.366_384delinsCTCTTCTTCCTCTTCCTCT | ENSP00000368796.1:p.Ser122= | |
| ENST00000379484.9:c.366_384delinsCTCTTCTTCCTCTTCCTCT | ENSP00000368798.5:p.Ser122= | |
| ENST00000465888.1:n.465_483delinsCTCTTCTTCCTCTTCCTCT | ||
| NM_015884.3:c.366_384delinsCTCTTCTTCCTCTTCCTCT | NP_056968.1:p.Ser122= | |
| NM_015884.4:c.366_384delinsCTCTTCTTCCTCTTCCTCT MANE Select | NP_056968.1:p.Ser122= |