Canonical Allele Identifier: CA2695231475

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22077655_22077656dup , CM000685.2:g.22077655_22077656dup	GRCh38
NC_000023.10:g.22095773_22095774dup , CM000685.1:g.22095773_22095774dup	GRCh37
NC_000023.9:g.22005694_22005695dup	NCBI36
NG_007563.2:g.49853_49854dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.1042_1043dup
ENST00000683214.1:n.724_725dup
ENST00000684143.1:c.613_614dup	ENSP00000508264.1:p.Leu205PhefsTer16
ENST00000684745.1:n.290_291dup
ENST00000379374.5:c.616_617dup MANE Select	ENSP00000368682.4:p.Leu206PhefsTer16
ENST00000379374.4:c.616_617dup	ENSP00000368682.4:p.Leu206PhefsTer16
NM_000444.5:c.616_617dup	NP_000435.3:p.Leu206PhefsTer16
NM_001282754.1:c.616_617dup	NP_001269683.1:p.Leu206PhefsTer16
XM_011545535.1:c.616_617dup	XP_011543837.1:p.Leu206PhefsTer16
XM_017029579.1:c.-93-12774_-93-12773dup	XP_016885068.1:n.-93-12774_-93-12773dup
XM_024452390.1:c.325_326dup	XP_024308158.1:p.Leu109PhefsTer16
XR_001755695.1:n.1295_1296dup
NM_000444.6:c.616_617dup MANE Select	NP_000435.3:p.Leu206PhefsTer16
NM_001282754.2:c.616_617dup	NP_001269683.1:p.Leu206PhefsTer16