Canonical Allele Identifier: CA2568789291

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22133537_22133546del , CM000685.2:g.22133537_22133546del	GRCh38
NC_000023.10:g.22151654_22151663del , CM000685.1:g.22151654_22151663del	GRCh37
NC_000023.9:g.22061575_22061584del	NCBI36
NG_007563.2:g.105734_105743del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684745.1:n.991_1000del
ENST00000379374.5:c.1317_1326del MANE Select	ENSP00000368682.4:p.Glu440AlafsTer8
ENST00000379374.4:c.1317_1326del	ENSP00000368682.4:p.Glu440AlafsTer8
NM_000444.5:c.1317_1326del	NP_000435.3:p.Glu440AlafsTer8
NM_001282754.1:c.1317_1326del	NP_001269683.1:p.Glu440AlafsTer8
XM_011545533.1:c.561_570del	XP_011543835.1:p.Glu188AlafsTer8
XM_011545534.1:c.561_570del	XP_011543836.1:p.Glu188AlafsTer8
XM_011545535.1:c.1317_1326del	XP_011543837.1:p.Glu440AlafsTer8
XM_011545536.1:c.210_219del	XP_011543838.1:p.Glu71AlafsTer8
XM_011545536.2:c.210_219del	XP_011543838.1:p.Glu71AlafsTer8
XM_017029579.1:c.561_570del	XP_016885068.1:p.Glu188AlafsTer8
XM_024452390.1:c.1026_1035del	XP_024308158.1:p.Glu343AlafsTer8
XR_001755695.1:n.1996_2005del
NM_000444.6:c.1317_1326del MANE Select	NP_000435.3:p.Glu440AlafsTer8
NM_001282754.2:c.1317_1326del	NP_001269683.1:p.Glu440AlafsTer8