Canonical Allele Identifier: CA2419147558

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22033071_22033079delinsCCTGGTCGT , CM000685.2:g.22033071_22033079delinsCCTGGTCGT	GRCh38
NC_000023.10:g.22051189_22051197delinsCCTGGTCGT , CM000685.1:g.22051189_22051197delinsCCTGGTCGT	GRCh37
NC_000023.9:g.21961110_21961118delinsCCTGGTCGT	NCBI36
NG_007563.2:g.5269_5277delinsCCTGGTCGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.492_500delinsCCTGGTCGT
ENST00000683214.1:n.492_500delinsCCTGGTCGT
ENST00000684143.1:c.66_74delinsCCTGGTCGT	ENSP00000508264.1:p.Ala22=
ENST00000379374.5:c.66_74delinsCCTGGTCGT MANE Select	ENSP00000368682.4:p.Ala22=
ENST00000379374.4:c.66_74delinsCCTGGTCGT	ENSP00000368682.4:p.Ala22=
NM_000444.5:c.66_74delinsCCTGGTCGT	NP_000435.3:p.Ala22=
NM_001282754.1:c.66_74delinsCCTGGTCGT	NP_001269683.1:p.Ala22=
XM_011545535.1:c.66_74delinsCCTGGTCGT	XP_011543837.1:p.Ala22=
XR_001755695.1:n.745_753delinsCCTGGTCGT
NM_000444.6:c.66_74delinsCCTGGTCGT MANE Select	NP_000435.3:p.Ala22=
NM_001282754.2:c.66_74delinsCCTGGTCGT	NP_001269683.1:p.Ala22=