Canonical Allele Identifier: CA2695231813

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 2737127
• ClinVar RCV Id: RCV003560218

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22227543_22227547dup , CM000685.2:g.22227543_22227547dup	GRCh38
NC_000023.10:g.22245660_22245664dup , CM000685.1:g.22245660_22245664dup	GRCh37
NC_000023.9:g.22155581_22155585dup	NCBI36
NG_007563.2:g.199740_199744dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000683162.1:c.556_560dup (PHEX)	ENSP00000508059.1:p.Glu187AspfsTer20
ENST00000683289.1:c.556_560dup (PHEX)	ENSP00000508195.1:p.Glu187AspfsTer20
ENST00000683917.1:n.786_790dup (PHEX)
ENST00000684356.1:c.556_560dup (PHEX)	ENSP00000507619.1:p.Glu187AspfsTer20
ENST00000684745.1:n.1676_1680dup (PHEX)
ENST00000379374.5:c.2002_2006dup (PHEX) MANE Select	ENSP00000368682.4:p.Glu669AspfsTer20
ENST00000379374.4:c.2002_2006dup (PHEX)	ENSP00000368682.4:p.Glu669AspfsTer20
NM_000444.5:c.2002_2006dup (PHEX)	NP_000435.3:p.Glu669AspfsTer20
NM_001282754.1:c.2002_2006dup (PHEX)	NP_001269683.1:p.Glu669AspfsTer20
XM_011545533.1:c.1246_1250dup (PHEX)	XP_011543835.1:p.Glu417AspfsTer20
XM_011545534.1:c.1246_1250dup (PHEX)	XP_011543836.1:p.Glu417AspfsTer20
XM_011545536.1:c.895_899dup (PHEX)	XP_011543838.1:p.Glu300AspfsTer20
XR_950534.1:n.250_254dup
NR_073010.2:n.973_977dup (PTCHD1-AS)
XM_011545536.2:c.895_899dup (PHEX)	XP_011543838.1:p.Glu300AspfsTer20
XM_017029579.1:c.1246_1250dup (PHEX)	XP_016885068.1:p.Glu417AspfsTer20
XM_024452390.1:c.1711_1715dup (PHEX)	XP_024308158.1:p.Glu572AspfsTer20
XR_001755695.1:n.2842_2846dup (PHEX)
NM_000444.6:c.2002_2006dup (PHEX) MANE Select	NP_000435.3:p.Glu669AspfsTer20
NM_001282754.2:c.2002_2006dup (PHEX)	NP_001269683.1:p.Glu669AspfsTer20