Linked Data
ClinVar Variation Id:
189695
ClinVar RCV Id:
RCV000170182
MyVariant Identifiers:
chrX:g.153295706_153302730delinsCACAAAGTG (hg19)
chrX:g.154030255_154037279delinsCACAAAGTG (hg38)
PubMed:
PMID:14974082
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154030255_154037279delinsCACAAAGTG , CM000685.2:g.154030255_154037279delinsCACAAAGTG | GRCh38 |
| NC_000023.10:g.153295706_153302730delinsCACAAAGTG , CM000685.1:g.153295706_153302730delinsCACAAAGTG | GRCh37 |
| NC_000023.9:g.152948900_152955924delinsCACAAAGTG | NCBI36 |
| NG_007107.2:g.104849_111873delinsCACTTTGTG | |
| NG_007107.3:g.104825_111849delinsCACTTTGTG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303391.11:c.27-4722_*112delinsCACTTTGTG | ||
| ENST00000453960.7:c.63-4722_*112delinsCACTTTGTG | ||
| ENST00000303391.10:c.27-4722_*112delinsCACTTTGTG | ||
| ENST00000453960.6:c.63-4722_*112delinsCACTTTGTG | ||
| ENST00000619732.4:c.27-4722_*39delinsCACTTTGTG | ||
| ENST00000628176.2:c.27-4722_*945delinsCACTTTGTG | ||
| NM_001110792.1:c.63-4722_*112delinsCACTTTGTG | ||
| NM_001316337.1:c.-253-4722_*112delinsCACTTTGTG | ||
| NM_004992.3:c.27-4722_*112delinsCACTTTGTG | ||
| XM_005274681.3:c.27-4722_*112delinsCACTTTGTG | ||
| XM_005274682.3:c.-254+2513_*112delinsCACTTTGTG | ||
| XM_005274683.3:c.-253-4722_*112delinsCACTTTGTG | ||
| XM_011531166.1:c.-253-4722_*112delinsCACTTTGTG | ||
| XM_006724819.3:c.-535+2513_*112delinsCACTTTGTG | ||
| XM_011531166.2:c.-253-4722_*112delinsCACTTTGTG | ||
| XM_024452383.1:c.-253-4722_*112delinsCACTTTGTG | ||
| XM_024452384.1:c.-254+2513_*112delinsCACTTTGTG | ||
| NM_001110792.2:c.63-4722_*112delinsCACTTTGTG | ||
| NM_001316337.2:c.-253-4722_*112delinsCACTTTGTG | ||
| NM_001369391.2:c.-253-4722_*112delinsCACTTTGTG | ||
| NM_001369392.2:c.-254+2513_*112delinsCACTTTGTG | ||
| NM_001369393.2:c.-254+2513_*112delinsCACTTTGTG | ||
| NM_001369394.1:c.-253-4722_*112delinsCACTTTGTG | ||
| NM_001369394.2:c.-253-4722_*112delinsCACTTTGTG | ||
| NM_001386137.1:c.-535+2513_*112delinsCACTTTGTG | ||
| NM_001386138.1:c.-534-4722_*112delinsCACTTTGTG | ||
| NM_001386139.1:c.-534-4722_*112delinsCACTTTGTG | ||
| NM_004992.4:c.27-4722_*112delinsCACTTTGTG |