Linked Data
ClinVar Variation Id:
189697
ClinVar RCV Id:
RCV000170184
MyVariant Identifiers:
chrX:g.153296377_153303782delinsTGACATCAGTCCGGGCAC (hg19)
chrX:g.154030926_154038331delinsTGACATCAGTCCGGGCAC (hg38)
PubMed:
PMID:14974082
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154030926_154038331delinsTGACATCAGTCCGGGCAC , CM000685.2:g.154030926_154038331delinsTGACATCAGTCCGGGCAC | GRCh38 |
| NC_000023.10:g.153296377_153303782delinsTGACATCAGTCCGGGCAC , CM000685.1:g.153296377_153303782delinsTGACATCAGTCCGGGCAC | GRCh37 |
| NC_000023.9:g.152949571_152956976delinsTGACATCAGTCCGGGCAC | NCBI36 |
| NG_007107.2:g.103797_111202delinsGTGCCCGGACTGATGTCA | |
| NG_007107.3:g.103773_111178delinsGTGCCCGGACTGATGTCA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303391.11:c.27-5774_902delinsGTGCCCGGACTGATGTCA | ||
| ENST00000453960.7:c.63-5774_938delinsGTGCCCGGACTGATGTCA | ||
| ENST00000303391.10:c.27-5774_902delinsGTGCCCGGACTGATGTCA | ||
| ENST00000407218.5:c.63-5774_*274delinsGTGCCCGGACTGATGTCA | ||
| ENST00000453960.6:c.63-5774_938delinsGTGCCCGGACTGATGTCA | ||
| ENST00000619732.4:c.27-5774_902delinsGTGCCCGGACTGATGTCA | ||
| ENST00000622433.4:c.15-5774_888delinsGTGCCCGGACTGATGTCA | ||
| ENST00000628176.2:c.27-5774_*274delinsGTGCCCGGACTGATGTCA | ||
| NM_001110792.1:c.63-5774_938delinsGTGCCCGGACTGATGTCA | ||
| NM_001316337.1:c.-253-5774_623delinsGTGCCCGGACTGATGTCA | ||
| NM_004992.3:c.27-5774_902delinsGTGCCCGGACTGATGTCA | ||
| XM_005274681.3:c.27-5774_902delinsGTGCCCGGACTGATGTCA | ||
| XM_005274682.3:c.-254+1461_623delinsGTGCCCGGACTGATGTCA | ||
| XM_005274683.3:c.-253-5774_623delinsGTGCCCGGACTGATGTCA | ||
| XM_011531166.1:c.-253-5774_623delinsGTGCCCGGACTGATGTCA | ||
| XM_006724819.3:c.-535+1461_233delinsGTGCCCGGACTGATGTCA | ||
| XM_011531166.2:c.-253-5774_623delinsGTGCCCGGACTGATGTCA | ||
| XM_024452383.1:c.-253-5774_623delinsGTGCCCGGACTGATGTCA | ||
| XM_024452384.1:c.-254+1461_623delinsGTGCCCGGACTGATGTCA | ||
| NM_001110792.2:c.63-5774_938delinsGTGCCCGGACTGATGTCA | ||
| NM_001316337.2:c.-253-5774_623delinsGTGCCCGGACTGATGTCA | ||
| NM_001369391.2:c.-253-5774_623delinsGTGCCCGGACTGATGTCA | ||
| NM_001369392.2:c.-254+1461_623delinsGTGCCCGGACTGATGTCA | ||
| NM_001369393.2:c.-254+1461_623delinsGTGCCCGGACTGATGTCA | ||
| NM_001369394.1:c.-253-5774_623delinsGTGCCCGGACTGATGTCA | ||
| NM_001369394.2:c.-253-5774_623delinsGTGCCCGGACTGATGTCA | ||
| NM_001386137.1:c.-535+1461_233delinsGTGCCCGGACTGATGTCA | ||
| NM_001386138.1:c.-534-5774_233delinsGTGCCCGGACTGATGTCA | ||
| NM_001386139.1:c.-534-5774_233delinsGTGCCCGGACTGATGTCA | ||
| NM_004992.4:c.27-5774_902delinsGTGCCCGGACTGATGTCA |