Canonical Allele Identifier: CA2419147559

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22033072_22033073delinsCT , CM000685.2:g.22033072_22033073delinsCT	GRCh38
NC_000023.10:g.22051190_22051191delinsCT , CM000685.1:g.22051190_22051191delinsCT	GRCh37
NC_000023.9:g.21961111_21961112delinsCT	NCBI36
NG_007563.2:g.5270_5271delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.493_494delinsCT
ENST00000683214.1:n.493_494delinsCT
ENST00000684143.1:c.67_68delinsCT	ENSP00000508264.1:p.Leu23=
ENST00000379374.5:c.67_68delinsCT MANE Select	ENSP00000368682.4:p.Leu23=
ENST00000379374.4:c.67_68delinsCT	ENSP00000368682.4:p.Leu23=
NM_000444.5:c.67_68delinsCT	NP_000435.3:p.Leu23=
NM_001282754.1:c.67_68delinsCT	NP_001269683.1:p.Leu23=
XM_011545535.1:c.67_68delinsCT	XP_011543837.1:p.Leu23=
XR_001755695.1:n.746_747delinsCT
NM_000444.6:c.67_68delinsCT MANE Select	NP_000435.3:p.Leu23=
NM_001282754.2:c.67_68delinsCT	NP_001269683.1:p.Leu23=