Canonical Allele Identifier: CA2573055219
Gene: PHEX HGNC NCBI
PTCHD1-AS HGNC NCBI

Linked Data

ClinVar Variation Id: 1339442
ClinVar RCV Id: RCV001843317
dbSNP Id: rs1569434045
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22226509del , CM000685.2:g.22226509del GRCh38
NC_000023.10:g.22244626del , CM000685.1:g.22244626del GRCh37
NC_000023.9:g.22154547del NCBI36
NG_007563.2:g.198706del

Transcript Alleles

HGVS Amino-acid Change
ENST00000683162.1:c.519+1del (PHEX)
ENST00000683289.1:c.519+1del (PHEX)
ENST00000683917.1:n.749+1del (PHEX)
ENST00000684356.1:c.519+1del (PHEX)
ENST00000684745.1:n.1639+1del (PHEX)
ENST00000379374.5:c.1965+1del (PHEX)
ENST00000379374.4:c.1965+1del (PHEX)
NM_000444.5:c.1965+1del (PHEX)
NM_001282754.1:c.1965+1del (PHEX)
XM_011545533.1:c.1209+1del (PHEX)
XM_011545534.1:c.1209+1del (PHEX)
XM_011545536.1:c.858+1del (PHEX)
XR_950534.1:n.326-484del
NR_073010.2:n.1048+963del (PTCHD1-AS)
XM_011545536.2:c.858+1del (PHEX)
XM_017029579.1:c.1209+1del (PHEX)
XM_024452390.1:c.1674+1del (PHEX)
XR_001755695.1:n.2805+1del (PHEX)
NM_000444.6:c.1965+1del (PHEX)
NM_001282754.2:c.1965+1del (PHEX)
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