Linked Data
dbSNP Id:
rs1569321348
gnomAD v2:
X-21863430-CTCTTCTTCCTCTTCCTCT-C
gnomAD v4:
X-21845312-CTCTTCTTCCTCTTCCTCT-C
MyVariant Identifiers:
chrX:g.21863436_21863454delinsA (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.21845318_21845335del , CM000685.2:g.21845318_21845335del | GRCh38 |
| NC_000023.10:g.21863436_21863453del , CM000685.1:g.21863436_21863453del | GRCh37 |
| NC_000023.9:g.21773357_21773374del | NCBI36 |
| NG_012797.1:g.10781_10798del | |
| NG_012797.2:g.10781_10798del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379484.10:c.372_389del MANE Select | ENSP00000368798.5:p.Ser125_Ser130del | |
| ENST00000365779.2:c.372_389del | ENSP00000368796.1:p.Ser125_Ser130del | |
| ENST00000379484.9:c.372_389del | ENSP00000368798.5:p.Ser125_Ser130del | |
| ENST00000465888.1:n.471_488del | ||
| NM_015884.3:c.372_389del | NP_056968.1:p.Ser125_Ser130del | |
| NM_015884.4:c.372_389del MANE Select | NP_056968.1:p.Ser125_Ser130del |