Canonical Allele Identifier: CA16043586
Gene: PHEX HGNC NCBI
PTCHD1-AS HGNC NCBI

Linked Data

ClinVar Variation Id: 374096
ClinVar RCV Id: RCV000414906
dbSNP Id: rs1057518896

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22247870_22247873dup , CM000685.2:g.22247870_22247873dup GRCh38
NC_000023.10:g.22265987_22265990dup , CM000685.1:g.22265987_22265990dup GRCh37
NC_000023.9:g.22175908_22175911dup NCBI36
NG_007563.2:g.220067_220070dup

Transcript Alleles

HGVS Amino-acid change
ENST00000683162.1:c.*105_*108dup (PHEX) ENSP00000508059.1:n.*105_*108dup
ENST00000683289.1:c.624+20259_624+20262dup (PHEX) ENSP00000508195.1:n.624+20259_624+20262du...
ENST00000683917.1:n.951_954dup (PHEX)
ENST00000684356.1:c.721_724dup (PHEX) ENSP00000507619.1:p.Phe242Ter
ENST00000684745.1:n.1841_1844dup (PHEX)
ENST00000379374.5:c.2167_2170dup (PHEX) MANE Select ENSP00000368682.4:p.Phe724Ter
ENST00000379374.4:c.2167_2170dup (PHEX) ENSP00000368682.4:p.Phe724Ter
NM_000444.5:c.2167_2170dup (PHEX) NP_000435.3:p.Phe724Ter
NM_001282754.1:c.*2_*5dup (PHEX) NP_001269683.1:n.*2_*5dup
XM_011545533.1:c.1411_1414dup (PHEX) XP_011543835.1:p.Phe472Ter
XM_011545534.1:c.1411_1414dup (PHEX) XP_011543836.1:p.Phe472Ter
XM_011545536.1:c.1060_1063dup (PHEX) XP_011543838.1:p.Phe355Ter
XR_950533.1:n.140+6067_140+6070dup
XR_950534.1:n.127+6067_127+6070dup
NR_073010.2:n.850+6067_850+6070dup (PTCHD1-AS)
XM_011545536.2:c.1060_1063dup (PHEX) XP_011543838.1:p.Phe355Ter
XM_017029579.1:c.1411_1414dup (PHEX) XP_016885068.1:p.Phe472Ter
XM_024452390.1:c.1876_1879dup (PHEX) XP_024308158.1:p.Phe627Ter
XR_001755695.1:n.3007_3010dup (PHEX)
NM_000444.6:c.2167_2170dup (PHEX) MANE Select NP_000435.3:p.Phe724Ter
NM_001282754.2:c.*2_*5dup (PHEX) NP_001269683.1:n.*2_*5dup