Canonical Allele Identifier: CA16621325
Gene: PHEX HGNC NCBI

Linked Data

ClinVar Variation Id: 418829
ClinVar RCV Id: RCV000483977
dbSNP Id: rs1064793461
MyVariant Identifiers: chrX:g.22196432del (hg19) chrX:g.22178315del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22178315del , CM000685.2:g.22178315del GRCh38
NC_000023.10:g.22196432del , CM000685.1:g.22196432del GRCh37
NC_000023.9:g.22106353del NCBI36
NG_007563.2:g.150512del

Transcript Alleles

HGVS Amino-acid change
ENST00000682888.1:c.79del ENSP00000508003.1:p.Thr27LeufsTer5
ENST00000683162.1:c.79del ENSP00000508059.1:p.Thr27LeufsTer5
ENST00000683289.1:c.79del ENSP00000508195.1:p.Thr27LeufsTer5
ENST00000683917.1:n.309del
ENST00000684356.1:c.79del ENSP00000507619.1:p.Thr27LeufsTer5
ENST00000684745.1:n.1199del
ENST00000379374.5:c.1525del MANE Select ENSP00000368682.4:p.Thr509LeufsTer5
ENST00000379374.4:c.1525del ENSP00000368682.4:p.Thr509LeufsTer5
NM_000444.5:c.1525del NP_000435.3:p.Thr509LeufsTer5
NM_001282754.1:c.1525del NP_001269683.1:p.Thr509LeufsTer5
XM_011545533.1:c.769del XP_011543835.1:p.Thr257LeufsTer5
XM_011545534.1:c.769del XP_011543836.1:p.Thr257LeufsTer5
XM_011545536.1:c.418del XP_011543838.1:p.Thr140LeufsTer5
XM_011545536.2:c.418del XP_011543838.1:p.Thr140LeufsTer5
XM_017029579.1:c.769del XP_016885068.1:p.Thr257LeufsTer5
XM_024452390.1:c.1234del XP_024308158.1:p.Thr412LeufsTer5
XR_001755695.1:n.2365del
NM_000444.6:c.1525del MANE Select NP_000435.3:p.Thr509LeufsTer5
NM_001282754.2:c.1525del NP_001269683.1:p.Thr509LeufsTer5
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