Canonical Allele Identifier: CA1139667274
Gene: PHEX HGNC NCBI

Linked Data

ClinVar Variation Id: 940590
ClinVar RCV Id: RCV001210205
dbSNP Id: rs1926873715
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22033088del , CM000685.2:g.22033088del GRCh38
NC_000023.10:g.22051206del , CM000685.1:g.22051206del GRCh37
NC_000023.9:g.21961127del NCBI36
NG_007563.2:g.5286del

Transcript Alleles

HGVS Amino-acid change
ENST00000475778.2:n.509del
ENST00000683214.1:n.509del
ENST00000684143.1:c.83del ENSP00000508264.1:p.Gly28ValfsTer4
ENST00000379374.5:c.83del MANE Select ENSP00000368682.4:p.Gly28ValfsTer4
ENST00000379374.4:c.83del ENSP00000368682.4:p.Gly28ValfsTer4
NM_000444.5:c.83del NP_000435.3:p.Gly28ValfsTer4
NM_001282754.1:c.83del NP_001269683.1:p.Gly28ValfsTer4
XM_011545535.1:c.83del XP_011543837.1:p.Gly28ValfsTer4
XR_001755695.1:n.762del
NM_000444.6:c.83del MANE Select NP_000435.3:p.Gly28ValfsTer4
NM_001282754.2:c.83del NP_001269683.1:p.Gly28ValfsTer4
Search 100 bp 5'
Search 100 bp 3'