Canonical Allele Identifier: CA2837995029

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22077582del , CM000685.2:g.22077582del	GRCh38
NC_000023.10:g.22095700del , CM000685.1:g.22095700del	GRCh37
NC_000023.9:g.22005621del	NCBI36
NG_007563.2:g.49780del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.969del
ENST00000683214.1:n.651del
ENST00000684143.1:c.540del	ENSP00000508264.1:p.Glu181ArgfsTer?
ENST00000684745.1:n.217del
ENST00000379374.5:c.543del MANE Select	ENSP00000368682.4:p.Glu182ArgfsTer?
ENST00000379374.4:c.543del	ENSP00000368682.4:p.Glu182ArgfsTer?
NM_000444.5:c.543del	NP_000435.3:p.Glu182ArgfsTer?
NM_001282754.1:c.543del	NP_001269683.1:p.Glu182ArgfsTer?
XM_011545535.1:c.543del	XP_011543837.1:p.Glu182ArgfsTer?
XM_017029579.1:c.-93-12847del	XP_016885068.1:n.-93-12847del
XM_024452390.1:c.252del	XP_024308158.1:p.Glu85ArgfsTer?
XR_001755695.1:n.1222del
NM_000444.6:c.543del MANE Select	NP_000435.3:p.Glu182ArgfsTer?
NM_001282754.2:c.543del	NP_001269683.1:p.Glu182ArgfsTer?