Linked Data
dbSNP Id:
rs1569321345
gnomAD v2:
X-21863430-CTCT-C
gnomAD v4:
X-21845312-CTCT-C
MyVariant Identifiers:
chrX:g.21863436_21863454delinsCTCTTCCTCTTCTTCA (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.21845318_21845320del , CM000685.2:g.21845318_21845320del | GRCh38 |
| NC_000023.10:g.21863436_21863438del , CM000685.1:g.21863436_21863438del | GRCh37 |
| NC_000023.9:g.21773357_21773359del | NCBI36 |
| NG_012797.1:g.10781_10783del | |
| NG_012797.2:g.10781_10783del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379484.10:c.372_374del MANE Select | ENSP00000368798.5:p.Ser125del | |
| ENST00000365779.2:c.372_374del | ENSP00000368796.1:p.Ser125del | |
| ENST00000379484.9:c.372_374del | ENSP00000368798.5:p.Ser125del | |
| ENST00000465888.1:n.471_473del | ||
| NM_015884.3:c.372_374del | NP_056968.1:p.Ser125del | |
| NM_015884.4:c.372_374del MANE Select | NP_056968.1:p.Ser125del |