Linked Data
ClinVar Variation Id:
279941
ClinVar RCV Id:
RCV000306173
dbSNP Id:
rs886041269
MyVariant Identifiers:
chrX:g.22244595_22244598dupTGAT (hg19)
chrX:g.22226478_22226481dupTGAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22226478_22226481dup , CM000685.2:g.22226478_22226481dup | GRCh38 |
| NC_000023.10:g.22244595_22244598dup , CM000685.1:g.22244595_22244598dup | GRCh37 |
| NC_000023.9:g.22154516_22154519dup | NCBI36 |
| NG_007563.2:g.198675_198678dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682888.1:c.489_492dup (PHEX) | ENSP00000508003.1:p.Asn165Ter | |
| ENST00000683162.1:c.489_492dup (PHEX) | ENSP00000508059.1:p.Asn165Ter | |
| ENST00000683289.1:c.489_492dup (PHEX) | ENSP00000508195.1:p.Asn165Ter | |
| ENST00000683917.1:n.719_722dup (PHEX) | ||
| ENST00000684356.1:c.489_492dup (PHEX) | ENSP00000507619.1:p.Asn165Ter | |
| ENST00000684745.1:n.1609_1612dup (PHEX) | ||
| ENST00000379374.5:c.1935_1938dup (PHEX) MANE Select | ENSP00000368682.4:p.Asn647Ter | |
| ENST00000379374.4:c.1935_1938dup (PHEX) | ENSP00000368682.4:p.Asn647Ter | |
| NM_000444.5:c.1935_1938dup (PHEX) | NP_000435.3:p.Asn647Ter | |
| NM_001282754.1:c.1935_1938dup (PHEX) | NP_001269683.1:p.Asn647Ter | |
| XM_011545533.1:c.1179_1182dup (PHEX) | XP_011543835.1:p.Asn395Ter | |
| XM_011545534.1:c.1179_1182dup (PHEX) | XP_011543836.1:p.Asn395Ter | |
| XM_011545536.1:c.828_831dup (PHEX) | XP_011543838.1:p.Asn278Ter | |
| XR_950534.1:n.326-458_326-455dup | ||
| NR_073010.2:n.1048+989_1048+992dup (PTCHD1-AS) | ||
| XM_011545536.2:c.828_831dup (PHEX) | XP_011543838.1:p.Asn278Ter | |
| XM_017029579.1:c.1179_1182dup (PHEX) | XP_016885068.1:p.Asn395Ter | |
| XM_024452390.1:c.1644_1647dup (PHEX) | XP_024308158.1:p.Asn550Ter | |
| XR_001755695.1:n.2775_2778dup (PHEX) | ||
| NM_000444.6:c.1935_1938dup (PHEX) MANE Select | NP_000435.3:p.Asn647Ter | |
| NM_001282754.2:c.1935_1938dup (PHEX) | NP_001269683.1:p.Asn647Ter |