Canonical Allele Identifier: CA2695232352

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22221630_22221631dup , CM000685.2:g.22221630_22221631dup	GRCh38
NC_000023.10:g.22239747_22239748dup , CM000685.1:g.22239747_22239748dup	GRCh37
NC_000023.9:g.22149668_22149669dup	NCBI36
NG_007563.2:g.193827_193828dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682888.1:c.340_341dup (PHEX)	ENSP00000508003.1:p.Asn114LysfsTer24
ENST00000683162.1:c.340_341dup (PHEX)	ENSP00000508059.1:p.Asn114LysfsTer24
ENST00000683289.1:c.340_341dup (PHEX)	ENSP00000508195.1:p.Asn114LysfsTer24
ENST00000683917.1:n.570_571dup (PHEX)
ENST00000684356.1:c.340_341dup (PHEX)	ENSP00000507619.1:p.Asn114LysfsTer24
ENST00000684745.1:n.1460_1461dup (PHEX)
ENST00000379374.5:c.1786_1787dup (PHEX) MANE Select	ENSP00000368682.4:p.Asn596LysfsTer24
ENST00000379374.4:c.1786_1787dup (PHEX)	ENSP00000368682.4:p.Asn596LysfsTer24
NM_000444.5:c.1786_1787dup (PHEX)	NP_000435.3:p.Asn596LysfsTer24
NM_001282754.1:c.1786_1787dup (PHEX)	NP_001269683.1:p.Asn596LysfsTer24
XM_011545533.1:c.1030_1031dup (PHEX)	XP_011543835.1:p.Asn344LysfsTer24
XM_011545534.1:c.1030_1031dup (PHEX)	XP_011543836.1:p.Asn344LysfsTer24
XM_011545536.1:c.679_680dup (PHEX)	XP_011543838.1:p.Asn227LysfsTer24
NR_073010.2:n.1048+5842_1048+5843dup (PTCHD1-AS)
XM_011545536.2:c.679_680dup (PHEX)	XP_011543838.1:p.Asn227LysfsTer24
XM_017029579.1:c.1030_1031dup (PHEX)	XP_016885068.1:p.Asn344LysfsTer24
XM_024452390.1:c.1495_1496dup (PHEX)	XP_024308158.1:p.Asn499LysfsTer24
XR_001755695.1:n.2626_2627dup (PHEX)
NM_000444.6:c.1786_1787dup (PHEX) MANE Select	NP_000435.3:p.Asn596LysfsTer24
NM_001282754.2:c.1786_1787dup (PHEX)	NP_001269683.1:p.Asn596LysfsTer24