Canonical Allele Identifier: CA2579572268

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22178329del , CM000685.2:g.22178329del	GRCh38
NC_000023.10:g.22196446del , CM000685.1:g.22196446del	GRCh37
NC_000023.9:g.22106367del	NCBI36
NG_007563.2:g.150526del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.93del	ENSP00000508003.1:p.Ala32HisfsTer8
ENST00000683162.1:c.93del	ENSP00000508059.1:p.Ala32HisfsTer8
ENST00000683289.1:c.93del	ENSP00000508195.1:p.Ala32HisfsTer8
ENST00000683917.1:n.323del
ENST00000684356.1:c.93del	ENSP00000507619.1:p.Ala32HisfsTer8
ENST00000684745.1:n.1213del
ENST00000379374.5:c.1539del MANE Select	ENSP00000368682.4:p.Ala514HisfsTer8
ENST00000379374.4:c.1539del	ENSP00000368682.4:p.Ala514HisfsTer8
NM_000444.5:c.1539del	NP_000435.3:p.Ala514HisfsTer8
NM_001282754.1:c.1539del	NP_001269683.1:p.Ala514HisfsTer8
XM_011545533.1:c.783del	XP_011543835.1:p.Ala262HisfsTer8
XM_011545534.1:c.783del	XP_011543836.1:p.Ala262HisfsTer8
XM_011545536.1:c.432del	XP_011543838.1:p.Ala145HisfsTer8
XM_011545536.2:c.432del	XP_011543838.1:p.Ala145HisfsTer8
XM_017029579.1:c.783del	XP_016885068.1:p.Ala262HisfsTer8
XM_024452390.1:c.1248del	XP_024308158.1:p.Ala417HisfsTer8
XR_001755695.1:n.2379del
NM_000444.6:c.1539del MANE Select	NP_000435.3:p.Ala514HisfsTer8
NM_001282754.2:c.1539del	NP_001269683.1:p.Ala514HisfsTer8