Canonical Allele Identifier: CA2695233014

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22178316del , CM000685.2:g.22178316del	GRCh38
NC_000023.10:g.22196433del , CM000685.1:g.22196433del	GRCh37
NC_000023.9:g.22106354del	NCBI36
NG_007563.2:g.150513del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.80del	ENSP00000508003.1:p.Thr27IlefsTer5
ENST00000683162.1:c.80del	ENSP00000508059.1:p.Thr27IlefsTer5
ENST00000683289.1:c.80del	ENSP00000508195.1:p.Thr27IlefsTer5
ENST00000683917.1:n.310del
ENST00000684356.1:c.80del	ENSP00000507619.1:p.Thr27IlefsTer5
ENST00000684745.1:n.1200del
ENST00000379374.5:c.1526del MANE Select	ENSP00000368682.4:p.Thr509IlefsTer5
ENST00000379374.4:c.1526del	ENSP00000368682.4:p.Thr509IlefsTer5
NM_000444.5:c.1526del	NP_000435.3:p.Thr509IlefsTer5
NM_001282754.1:c.1526del	NP_001269683.1:p.Thr509IlefsTer5
XM_011545533.1:c.770del	XP_011543835.1:p.Thr257IlefsTer5
XM_011545534.1:c.770del	XP_011543836.1:p.Thr257IlefsTer5
XM_011545536.1:c.419del	XP_011543838.1:p.Thr140IlefsTer5
XM_011545536.2:c.419del	XP_011543838.1:p.Thr140IlefsTer5
XM_017029579.1:c.770del	XP_016885068.1:p.Thr257IlefsTer5
XM_024452390.1:c.1235del	XP_024308158.1:p.Thr412IlefsTer5
XR_001755695.1:n.2366del
NM_000444.6:c.1526del MANE Select	NP_000435.3:p.Thr509IlefsTer5
NM_001282754.2:c.1526del	NP_001269683.1:p.Thr509IlefsTer5