Linked Data
dbSNP Id:
rs773969619
gnomAD v2:
X-21863430-C-CTCTTCTTCCTCTTCCTCTTATTCA
gnomAD v3:
X-21845312-C-CTCTTCTTCCTCTTCCTCTTATTCA
gnomAD v4:
X-21845312-C-CTCTTCTTCCTCTTCCTCTTATTCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.21845331_21845332insATTCATCTTCTTCCTCTTCCTCTT , CM000685.2:g.21845331_21845332insATTCATCTTCTTCCTCTTCCTCTT | GRCh38 |
| NC_000023.10:g.21863449_21863450insATTCATCTTCTTCCTCTTCCTCTT , CM000685.1:g.21863449_21863450insATTCATCTTCTTCCTCTTCCTCTT | GRCh37 |
| NC_000023.9:g.21773370_21773371insATTCATCTTCTTCCTCTTCCTCTT | NCBI36 |
| NG_012797.1:g.10794_10795insATTCATCTTCTTCCTCTTCCTCTT | |
| NG_012797.2:g.10794_10795insATTCATCTTCTTCCTCTTCCTCTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379484.10:c.385_386insATTCATCTTCTTCCTCTTCCTCTT MANE Select | ENSP00000368798.5:p.Ser128_Ser129insTyrSerSerSerSerSerSerSer | |
| ENST00000365779.2:c.385_386insATTCATCTTCTTCCTCTTCCTCTT | ENSP00000368796.1:p.Ser128_Ser129insTyrSerSerSerSerSerSerSer | |
| ENST00000379484.9:c.385_386insATTCATCTTCTTCCTCTTCCTCTT | ENSP00000368798.5:p.Ser128_Ser129insTyrSerSerSerSerSerSerSer | |
| ENST00000465888.1:n.484_485insATTCATCTTCTTCCTCTTCCTCTT | ||
| NM_015884.3:c.385_386insATTCATCTTCTTCCTCTTCCTCTT | NP_056968.1:p.Ser128_Ser129insTyrSerSerSerSerSerSerSer | |
| NM_015884.4:c.385_386insATTCATCTTCTTCCTCTTCCTCTT MANE Select | NP_056968.1:p.Ser128_Ser129insTyrSerSerSerSerSerSerSer |