Canonical Allele Identifier: CA1139667278
Gene: PHEX HGNC NCBI

Linked Data

ClinVar Variation Id: 945023
ClinVar RCV Id: RCV001215550
dbSNP Id: rs1927568868
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22047066del , CM000685.2:g.22047066del GRCh38
NC_000023.10:g.22065184del , CM000685.1:g.22065184del GRCh37
NC_000023.9:g.21975105del NCBI36
NG_007563.2:g.19264del

Transcript Alleles

HGVS Amino-acid Change
ENST00000475778.2:n.630del
ENST00000683214.1:n.544+13943del
ENST00000684143.1:c.204del ENSP00000508264.1:p.Ser68ArgfsTer3
ENST00000379374.5:c.204del MANE Select ENSP00000368682.4:p.Ser68ArgfsTer3
ENST00000379374.4:c.204del ENSP00000368682.4:p.Ser68ArgfsTer3
NM_000444.5:c.204del NP_000435.3:p.Ser68ArgfsTer3
NM_001282754.1:c.204del NP_001269683.1:p.Ser68ArgfsTer3
XM_011545535.1:c.204del XP_011543837.1:p.Ser68ArgfsTer3
XM_024452390.1:c.-88del XP_024308158.1:n.-88del
XR_001755695.1:n.883del
NM_000444.6:c.204del MANE Select NP_000435.3:p.Ser68ArgfsTer3
NM_001282754.2:c.204del NP_001269683.1:p.Ser68ArgfsTer3
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