Linked Data
ClinVar Variation Id:
368740
ClinVar RCV Id:
RCV000365062
dbSNP Id:
rs1057516011
MyVariant Identifiers:
chrX:g.84499154delinsGGCGGCGGCG (hg19)
chrX:g.85244148delinsGGCGGCGGCG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.85244148delinsGGCGGCGGCG , CM000685.2:g.85244148delinsGGCGGCGGCG | GRCh38 |
| NC_000023.10:g.84499154delinsGGCGGCGGCG , CM000685.1:g.84499154delinsGGCGGCGGCG | GRCh37 |
| NC_000023.9:g.84385810delinsGGCGGCGGCG | NCBI36 |
| NG_012535.1:g.5158delinsGGCGGCGGCG | |
| NG_016590.2:g.4632delinsCGCCGCCGCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674551.1:c.-449delinsGGCGGCGGCG MANE Select | ENSP00000502839.1:n.-449delinsGGCGGCGGCG | |
| ENST00000276123.7:c.-444delinsGGCGGCGGCG | ENSP00000276123.3:n.-444delinsGGCGGCGGCG | |
| ENST00000373165.7:c.-190delinsGGCGGCGGCG | ENSP00000362260.3:n.-190delinsGGCGGCGGCG | |
| NM_021998.4:c.-190delinsGGCGGCGGCG | NP_068838.3:n.-190delinsGGCGGCGGCG | |
| XM_005262186.1:c.-444delinsGGCGGCGGCG | XP_005262243.1:n.-444delinsGGCGGCGGCG | |
| XM_005262187.1:c.-333delinsGGCGGCGGCG | XP_005262244.1:n.-333delinsGGCGGCGGCG | |
| XM_005262188.1:c.-190delinsGGCGGCGGCG | XP_005262245.1:n.-190delinsGGCGGCGGCG | |
| XM_005262189.1:c.-444delinsGGCGGCGGCG | XP_005262246.1:n.-444delinsGGCGGCGGCG | |
| XM_011531019.1:c.-807delinsGGCGGCGGCG | XP_011529321.1:n.-807delinsGGCGGCGGCG | |
| XM_011531020.1:c.-444delinsGGCGGCGGCG | XP_011529322.1:n.-444delinsGGCGGCGGCG | |
| XM_011531021.1:c.-449delinsGGCGGCGGCG | XP_011529323.1:n.-449delinsGGCGGCGGCG | |
| XM_011531022.1:c.-333delinsGGCGGCGGCG | XP_011529324.1:n.-333delinsGGCGGCGGCG | |
| XM_011531023.1:c.-190delinsGGCGGCGGCG | XP_011529325.1:n.-190delinsGGCGGCGGCG | |
| XM_011531024.1:c.-807delinsGGCGGCGGCG | XP_011529326.1:n.-807delinsGGCGGCGGCG | |
| XM_011531025.1:c.-807delinsGGCGGCGGCG | XP_011529327.1:n.-807delinsGGCGGCGGCG | |
| XM_011531026.1:c.-807delinsGGCGGCGGCG | XP_011529328.1:n.-807delinsGGCGGCGGCG | |
| NM_001330574.1:c.-449delinsGGCGGCGGCG | NP_001317503.1:n.-449delinsGGCGGCGGCG | |
| XM_005262186.3:c.-444delinsGGCGGCGGCG | XP_005262243.1:n.-444delinsGGCGGCGGCG | |
| XM_005262189.3:c.-444delinsGGCGGCGGCG | XP_005262246.1:n.-444delinsGGCGGCGGCG | |
| XM_011531023.3:c.-190delinsGGCGGCGGCG | XP_011529325.1:n.-190delinsGGCGGCGGCG | |
| XM_017029805.1:c.-70delinsGGCGGCGGCG | XP_016885294.1:n.-70delinsGGCGGCGGCG | |
| XM_017029807.1:c.-449delinsGGCGGCGGCG | XP_016885296.1:n.-449delinsGGCGGCGGCG | |
| XM_017029808.1:c.-333delinsGGCGGCGGCG | XP_016885297.1:n.-333delinsGGCGGCGGCG | |
| XM_017029809.1:c.-70delinsGGCGGCGGCG | XP_016885298.1:n.-70delinsGGCGGCGGCG | |
| NM_001330574.2:c.-449delinsGGCGGCGGCG MANE Select | NP_001317503.1:n.-449delinsGGCGGCGGCG | |
| NM_001375431.1:c.-70delinsGGCGGCGGCG | NP_001362360.1:n.-70delinsGGCGGCGGCG | |
| NM_001375432.1:c.-444delinsGGCGGCGGCG | NP_001362361.1:n.-444delinsGGCGGCGGCG | |
| NM_001375433.1:c.-807delinsGGCGGCGGCG | NP_001362362.1:n.-807delinsGGCGGCGGCG | |
| NM_001375434.1:c.-333delinsGGCGGCGGCG | NP_001362363.1:n.-333delinsGGCGGCGGCG | |
| NM_001375435.1:c.-807delinsGGCGGCGGCG | NP_001362364.1:n.-807delinsGGCGGCGGCG | |
| NM_001375436.1:c.-449delinsGGCGGCGGCG | NP_001362365.1:n.-449delinsGGCGGCGGCG | |
| NM_001375437.1:c.-444delinsGGCGGCGGCG | NP_001362366.1:n.-444delinsGGCGGCGGCG | |
| NM_021998.5:c.-190delinsGGCGGCGGCG | NP_068838.3:n.-190delinsGGCGGCGGCG |