Canonical Allele Identifier: CA2695231780

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22133539_22133541del , CM000685.2:g.22133539_22133541del	GRCh38
NC_000023.10:g.22151656_22151658del , CM000685.1:g.22151656_22151658del	GRCh37
NC_000023.9:g.22061577_22061579del	NCBI36
NG_007563.2:g.105736_105738del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684745.1:n.993_995del
ENST00000379374.5:c.1319_1321del MANE Select	ENSP00000368682.4:p.Glu440del
ENST00000379374.4:c.1319_1321del	ENSP00000368682.4:p.Glu440del
NM_000444.5:c.1319_1321del	NP_000435.3:p.Glu440del
NM_001282754.1:c.1319_1321del	NP_001269683.1:p.Glu440del
XM_011545533.1:c.563_565del	XP_011543835.1:p.Glu188del
XM_011545534.1:c.563_565del	XP_011543836.1:p.Glu188del
XM_011545535.1:c.1319_1321del	XP_011543837.1:p.Glu440del
XM_011545536.1:c.212_214del	XP_011543838.1:p.Glu71del
XM_011545536.2:c.212_214del	XP_011543838.1:p.Glu71del
XM_017029579.1:c.563_565del	XP_016885068.1:p.Glu188del
XM_024452390.1:c.1028_1030del	XP_024308158.1:p.Glu343del
XR_001755695.1:n.1998_2000del
NM_000444.6:c.1319_1321del MANE Select	NP_000435.3:p.Glu440del
NM_001282754.2:c.1319_1321del	NP_001269683.1:p.Glu440del