Canonical Allele Identifier: CA2840201555

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22178372dup , CM000685.2:g.22178372dup	GRCh38
NC_000023.10:g.22196489dup , CM000685.1:g.22196489dup	GRCh37
NC_000023.9:g.22106410dup	NCBI36
NG_007563.2:g.150569dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.136dup	ENSP00000508003.1:p.Thr46AsnfsTer?
ENST00000683162.1:c.136dup	ENSP00000508059.1:p.Thr46AsnfsTer?
ENST00000683289.1:c.136dup	ENSP00000508195.1:p.Thr46AsnfsTer?
ENST00000683917.1:n.366dup
ENST00000684356.1:c.136dup	ENSP00000507619.1:p.Thr46AsnfsTer?
ENST00000684745.1:n.1256dup
ENST00000379374.5:c.1582dup MANE Select	ENSP00000368682.4:p.Thr528AsnfsTer?
ENST00000379374.4:c.1582dup	ENSP00000368682.4:p.Thr528AsnfsTer?
NM_000444.5:c.1582dup	NP_000435.3:p.Thr528AsnfsTer?
NM_001282754.1:c.1582dup	NP_001269683.1:p.Thr528AsnfsTer?
XM_011545533.1:c.826dup	XP_011543835.1:p.Thr276AsnfsTer?
XM_011545534.1:c.826dup	XP_011543836.1:p.Thr276AsnfsTer?
XM_011545536.1:c.475dup	XP_011543838.1:p.Thr159AsnfsTer?
XM_011545536.2:c.475dup	XP_011543838.1:p.Thr159AsnfsTer?
XM_017029579.1:c.826dup	XP_016885068.1:p.Thr276AsnfsTer?
XM_024452390.1:c.1291dup	XP_024308158.1:p.Thr431AsnfsTer?
XR_001755695.1:n.2422dup
NM_000444.6:c.1582dup MANE Select	NP_000435.3:p.Thr528AsnfsTer?
NM_001282754.2:c.1582dup	NP_001269683.1:p.Thr528AsnfsTer?