Canonical Allele Identifier: CA1139667279
Gene: PHEX HGNC NCBI

Linked Data

ClinVar Variation Id: 968604
ClinVar RCV Id: RCV001243781
dbSNP Id: rs1927577124
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22047137_22047142delinsT , CM000685.2:g.22047137_22047142delinsT GRCh38
NC_000023.10:g.22065255_22065260delinsT , CM000685.1:g.22065255_22065260delinsT GRCh37
NC_000023.9:g.21975176_21975181delinsT NCBI36
NG_007563.2:g.19335_19340delinsT

Transcript Alleles

HGVS Amino-acid Change
ENST00000475778.2:n.701_706delinsT
ENST00000683214.1:n.544+14014_544+14019delinsT
ENST00000684143.1:c.275_280delinsT ENSP00000508264.1:p.Asn92IlefsTer17
ENST00000379374.5:c.275_280delinsT MANE Select ENSP00000368682.4:p.Asn92IlefsTer17
ENST00000379374.4:c.275_280delinsT ENSP00000368682.4:p.Asn92IlefsTer17
NM_000444.5:c.275_280delinsT NP_000435.3:p.Asn92IlefsTer17
NM_001282754.1:c.275_280delinsT NP_001269683.1:p.Asn92IlefsTer17
XM_011545535.1:c.275_280delinsT XP_011543837.1:p.Asn92IlefsTer17
XM_024452390.1:c.-17_-12delinsT XP_024308158.1:n.-17_-12delinsT
XR_001755695.1:n.954_959delinsT
NM_000444.6:c.275_280delinsT MANE Select NP_000435.3:p.Asn92IlefsTer17
NM_001282754.2:c.275_280delinsT NP_001269683.1:p.Asn92IlefsTer17
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