Canonical Allele Identifier: CA16621341
Gene: PHEX HGNC NCBI
PTCHD1-AS HGNC NCBI

Linked Data

ClinVar Variation Id: 423633
ClinVar RCV Id: RCV000479229
dbSNP Id: rs1064796540
MyVariant Identifiers: chrX:g.22263497_22263498del (hg19) chrX:g.22245380_22245381del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22245380_22245381del , CM000685.2:g.22245380_22245381del GRCh38
NC_000023.10:g.22263497_22263498del , CM000685.1:g.22263497_22263498del GRCh37
NC_000023.9:g.22173418_22173419del NCBI36
NG_007563.2:g.217577_217578del

Transcript Alleles

HGVS Amino-acid change
ENST00000683162.1:c.672_673del (PHEX) ENSP00000508059.1:p.Gln224HisfsTer10
ENST00000683289.1:c.624+17769_624+17770del (PHEX) ENSP00000508195.1:n.624+17769_624+17770de...
ENST00000683917.1:n.902_903del (PHEX)
ENST00000684356.1:c.672_673del (PHEX) ENSP00000507619.1:p.Gln224HisfsTer10
ENST00000684745.1:n.1792_1793del (PHEX)
ENST00000379374.5:c.2118_2119del (PHEX) MANE Select ENSP00000368682.4:p.Gln706HisfsTer10
ENST00000379374.4:c.2118_2119del (PHEX) ENSP00000368682.4:p.Gln706HisfsTer10
NM_000444.5:c.2118_2119del (PHEX) NP_000435.3:p.Gln706HisfsTer10
NM_001282754.1:c.2071-2471_2071-2470del (PHEX) NP_001269683.1:n.2071-2471_2071-2470del
XM_011545533.1:c.1362_1363del (PHEX) XP_011543835.1:p.Gln454HisfsTer10
XM_011545534.1:c.1362_1363del (PHEX) XP_011543836.1:p.Gln454HisfsTer10
XM_011545536.1:c.1011_1012del (PHEX) XP_011543838.1:p.Gln337HisfsTer10
XR_950533.1:n.140+8559_140+8560del
XR_950534.1:n.127+8559_127+8560del
NR_073010.2:n.850+8559_850+8560del (PTCHD1-AS)
XM_011545536.2:c.1011_1012del (PHEX) XP_011543838.1:p.Gln337HisfsTer10
XM_017029579.1:c.1362_1363del (PHEX) XP_016885068.1:p.Gln454HisfsTer10
XM_024452390.1:c.1827_1828del (PHEX) XP_024308158.1:p.Gln609HisfsTer10
XR_001755695.1:n.2958_2959del (PHEX)
NM_000444.6:c.2118_2119del (PHEX) MANE Select NP_000435.3:p.Gln706HisfsTer10
NM_001282754.2:c.2071-2471_2071-2470del (PHEX) NP_001269683.1:n.2071-2471_2071-2470del
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