Canonical Allele Identifier: CA2419195546

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22178226_22178227delinsCT , CM000685.2:g.22178226_22178227delinsCT	GRCh38
NC_000023.10:g.22196343_22196344delinsCT , CM000685.1:g.22196343_22196344delinsCT	GRCh37
NC_000023.9:g.22106264_22106265delinsCT	NCBI36
NG_007563.2:g.150423_150424delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.37-47_37-46delinsCT	ENSP00000508003.1:n.37-47_37-46delinsCT
ENST00000683162.1:c.37-47_37-46delinsCT	ENSP00000508059.1:n.37-47_37-46delinsCT
ENST00000683289.1:c.37-47_37-46delinsCT	ENSP00000508195.1:n.37-47_37-46delinsCT
ENST00000683917.1:n.267-47_267-46delinsCT
ENST00000684356.1:c.37-47_37-46delinsCT	ENSP00000507619.1:n.37-47_37-46delinsCT
ENST00000684745.1:n.1157-47_1157-46delinsCT
ENST00000379374.5:c.1483-47_1483-46delinsCT MANE Select	ENSP00000368682.4:n.1483-47_1483-46delinsCT
ENST00000379374.4:c.1483-47_1483-46delinsCT	ENSP00000368682.4:n.1483-47_1483-46delinsCT
NM_000444.5:c.1483-47_1483-46delinsCT	NP_000435.3:n.1483-47_1483-46delinsCT
NM_001282754.1:c.1483-47_1483-46delinsCT	NP_001269683.1:n.1483-47_1483-46delinsCT
XM_011545533.1:c.727-47_727-46delinsCT	XP_011543835.1:n.727-47_727-46delinsCT
XM_011545534.1:c.727-47_727-46delinsCT	XP_011543836.1:n.727-47_727-46delinsCT
XM_011545536.1:c.376-47_376-46delinsCT	XP_011543838.1:n.376-47_376-46delinsCT
XM_011545536.2:c.376-47_376-46delinsCT	XP_011543838.1:n.376-47_376-46delinsCT
XM_017029579.1:c.727-47_727-46delinsCT	XP_016885068.1:n.727-47_727-46delinsCT
XM_024452390.1:c.1192-47_1192-46delinsCT	XP_024308158.1:n.1192-47_1192-46delinsCT
XR_001755695.1:n.2323-47_2323-46delinsCT
NM_000444.6:c.1483-47_1483-46delinsCT MANE Select	NP_000435.3:n.1483-47_1483-46delinsCT
NM_001282754.2:c.1483-47_1483-46delinsCT	NP_001269683.1:n.1483-47_1483-46delinsCT