Canonical Allele Identifier: CA916083866
Gene: PHEX HGNC NCBI

Linked Data

ClinVar Variation Id: 839198
ClinVar RCV Id: RCV001040903
dbSNP Id: rs1926871899
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22033073del , CM000685.2:g.22033073del GRCh38
NC_000023.10:g.22051191del , CM000685.1:g.22051191del GRCh37
NC_000023.9:g.21961112del NCBI36
NG_007563.2:g.5271del

Transcript Alleles

HGVS Amino-acid change
ENST00000475778.2:n.494del
ENST00000683214.1:n.494del
ENST00000684143.1:c.68del ENSP00000508264.1:p.Leu23ArgfsTer9
ENST00000379374.5:c.68del MANE Select ENSP00000368682.4:p.Leu23ArgfsTer9
ENST00000379374.4:c.68del ENSP00000368682.4:p.Leu23ArgfsTer9
NM_000444.5:c.68del NP_000435.3:p.Leu23ArgfsTer9
NM_001282754.1:c.68del NP_001269683.1:p.Leu23ArgfsTer9
XM_011545535.1:c.68del XP_011543837.1:p.Leu23ArgfsTer9
XR_001755695.1:n.747del
NM_000444.6:c.68del MANE Select NP_000435.3:p.Leu23ArgfsTer9
NM_001282754.2:c.68del NP_001269683.1:p.Leu23ArgfsTer9
Search 100 bp 5'
Search 100 bp 3'