Canonical Allele Identifier: CA2419195587

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22178324_22178325delinsTA , CM000685.2:g.22178324_22178325delinsTA	GRCh38
NC_000023.10:g.22196441_22196442delinsTA , CM000685.1:g.22196441_22196442delinsTA	GRCh37
NC_000023.9:g.22106362_22106363delinsTA	NCBI36
NG_007563.2:g.150521_150522delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.88_89delinsTA	ENSP00000508003.1:p.Tyr30=
ENST00000683162.1:c.88_89delinsTA	ENSP00000508059.1:p.Tyr30=
ENST00000683289.1:c.88_89delinsTA	ENSP00000508195.1:p.Tyr30=
ENST00000683917.1:n.318_319delinsTA
ENST00000684356.1:c.88_89delinsTA	ENSP00000507619.1:p.Tyr30=
ENST00000684745.1:n.1208_1209delinsTA
ENST00000379374.5:c.1534_1535delinsTA MANE Select	ENSP00000368682.4:p.Tyr512=
ENST00000379374.4:c.1534_1535delinsTA	ENSP00000368682.4:p.Tyr512=
NM_000444.5:c.1534_1535delinsTA	NP_000435.3:p.Tyr512=
NM_001282754.1:c.1534_1535delinsTA	NP_001269683.1:p.Tyr512=
XM_011545533.1:c.778_779delinsTA	XP_011543835.1:p.Tyr260=
XM_011545534.1:c.778_779delinsTA	XP_011543836.1:p.Tyr260=
XM_011545536.1:c.427_428delinsTA	XP_011543838.1:p.Tyr143=
XM_011545536.2:c.427_428delinsTA	XP_011543838.1:p.Tyr143=
XM_017029579.1:c.778_779delinsTA	XP_016885068.1:p.Tyr260=
XM_024452390.1:c.1243_1244delinsTA	XP_024308158.1:p.Tyr415=
XR_001755695.1:n.2374_2375delinsTA
NM_000444.6:c.1534_1535delinsTA MANE Select	NP_000435.3:p.Tyr512=
NM_001282754.2:c.1534_1535delinsTA	NP_001269683.1:p.Tyr512=