Canonical Allele Identifier: CA2579572199

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22133527del , CM000685.2:g.22133527del	GRCh38
NC_000023.10:g.22151644del , CM000685.1:g.22151644del	GRCh37
NC_000023.9:g.22061565del	NCBI36
NG_007563.2:g.105724del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684745.1:n.981del
ENST00000379374.5:c.1307del MANE Select	ENSP00000368682.4:p.Glu436GlyfsTer15
ENST00000379374.4:c.1307del	ENSP00000368682.4:p.Glu436GlyfsTer15
NM_000444.5:c.1307del	NP_000435.3:p.Glu436GlyfsTer15
NM_001282754.1:c.1307del	NP_001269683.1:p.Glu436GlyfsTer15
XM_011545533.1:c.551del	XP_011543835.1:p.Glu184GlyfsTer15
XM_011545534.1:c.551del	XP_011543836.1:p.Glu184GlyfsTer15
XM_011545535.1:c.1307del	XP_011543837.1:p.Glu436GlyfsTer15
XM_011545536.1:c.200del	XP_011543838.1:p.Glu67GlyfsTer15
XM_011545536.2:c.200del	XP_011543838.1:p.Glu67GlyfsTer15
XM_017029579.1:c.551del	XP_016885068.1:p.Glu184GlyfsTer15
XM_024452390.1:c.1016del	XP_024308158.1:p.Glu339GlyfsTer15
XR_001755695.1:n.1986del
NM_000444.6:c.1307del MANE Select	NP_000435.3:p.Glu436GlyfsTer15
NM_001282754.2:c.1307del	NP_001269683.1:p.Glu436GlyfsTer15