Canonical Allele Identifier: CA1139667273

Gene: PHEX

Linked Data

• ClinVar Variation Id: 935048
• ClinVar RCV Id: RCV001203553
• dbSNP Id: rs1926871732

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22033072_22033079del , CM000685.2:g.22033072_22033079del	GRCh38
NC_000023.10:g.22051190_22051197del , CM000685.1:g.22051190_22051197del	GRCh37
NC_000023.9:g.21961111_21961118del	NCBI36
NG_007563.2:g.5270_5277del

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.493_500del
ENST00000683214.1:n.493_500del
ENST00000684143.1:c.67_74del	ENSP00000508264.1:p.Leu23ValfsTer25
ENST00000379374.5:c.67_74del MANE Select	ENSP00000368682.4:p.Leu23ValfsTer25
ENST00000379374.4:c.67_74del	ENSP00000368682.4:p.Leu23ValfsTer25
NM_000444.5:c.67_74del	NP_000435.3:p.Leu23ValfsTer25
NM_001282754.1:c.67_74del	NP_001269683.1:p.Leu23ValfsTer25
XM_011545535.1:c.67_74del	XP_011543837.1:p.Leu23ValfsTer25
XR_001755695.1:n.746_753del
NM_000444.6:c.67_74del MANE Select	NP_000435.3:p.Leu23ValfsTer25
NM_001282754.2:c.67_74del	NP_001269683.1:p.Leu23ValfsTer25