Canonical Allele Identifier: CA2419181305

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22133531_22133532delinsAT , CM000685.2:g.22133531_22133532delinsAT	GRCh38
NC_000023.10:g.22151648_22151649delinsAT , CM000685.1:g.22151648_22151649delinsAT	GRCh37
NC_000023.9:g.22061569_22061570delinsAT	NCBI36
NG_007563.2:g.105728_105729delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684745.1:n.985_986delinsAT
ENST00000379374.5:c.1311_1312delinsAT MANE Select	ENSP00000368682.4:p.Glu437=
ENST00000379374.4:c.1311_1312delinsAT	ENSP00000368682.4:p.Glu437=
NM_000444.5:c.1311_1312delinsAT	NP_000435.3:p.Glu437=
NM_001282754.1:c.1311_1312delinsAT	NP_001269683.1:p.Glu437=
XM_011545533.1:c.555_556delinsAT	XP_011543835.1:p.Glu185=
XM_011545534.1:c.555_556delinsAT	XP_011543836.1:p.Glu185=
XM_011545535.1:c.1311_1312delinsAT	XP_011543837.1:p.Glu437=
XM_011545536.1:c.204_205delinsAT	XP_011543838.1:p.Glu68=
XM_011545536.2:c.204_205delinsAT	XP_011543838.1:p.Glu68=
XM_017029579.1:c.555_556delinsAT	XP_016885068.1:p.Glu185=
XM_024452390.1:c.1020_1021delinsAT	XP_024308158.1:p.Glu340=
XR_001755695.1:n.1990_1991delinsAT
NM_000444.6:c.1311_1312delinsAT MANE Select	NP_000435.3:p.Glu437=
NM_001282754.2:c.1311_1312delinsAT	NP_001269683.1:p.Glu437=