Canonical Allele Identifier: CA2580616909

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 2110023
• ClinVar RCV Id: RCV003020137

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247926_22247927dup , CM000685.2:g.22247926_22247927dup	GRCh38
NC_000023.10:g.22266043_22266044dup , CM000685.1:g.22266043_22266044dup	GRCh37
NC_000023.9:g.22175964_22175965dup	NCBI36
NG_007563.2:g.220123_220124dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*161_*162dup (PHEX)	ENSP00000508059.1:n.*161_*162dup
ENST00000683289.1:c.624+20315_624+20316dup (PHEX)	ENSP00000508195.1:n.624+20315_624+20316dup
ENST00000683917.1:n.1007_1008dup (PHEX)
ENST00000684356.1:c.777_778dup (PHEX)	ENSP00000507619.1:p.Gly260GlufsTer30
ENST00000684745.1:n.1897_1898dup (PHEX)
ENST00000379374.5:c.2223_2224dup (PHEX) MANE Select	ENSP00000368682.4:p.Gly742GlufsTer30
ENST00000379374.4:c.2223_2224dup (PHEX)	ENSP00000368682.4:p.Gly742GlufsTer30
NM_000444.5:c.2223_2224dup (PHEX)	NP_000435.3:p.Gly742GlufsTer30
NM_001282754.1:c.*58_*59dup (PHEX)	NP_001269683.1:n.*58_*59dup
XM_011545533.1:c.1467_1468dup (PHEX)	XP_011543835.1:p.Gly490GlufsTer30
XM_011545534.1:c.1467_1468dup (PHEX)	XP_011543836.1:p.Gly490GlufsTer30
XM_011545536.1:c.1116_1117dup (PHEX)	XP_011543838.1:p.Gly373GlufsTer30
XR_950533.1:n.140+6014_140+6015dup
XR_950534.1:n.127+6014_127+6015dup
NR_073010.2:n.850+6014_850+6015dup (PTCHD1-AS)
XM_011545536.2:c.1116_1117dup (PHEX)	XP_011543838.1:p.Gly373GlufsTer30
XM_017029579.1:c.1467_1468dup (PHEX)	XP_016885068.1:p.Gly490GlufsTer30
XM_024452390.1:c.1932_1933dup (PHEX)	XP_024308158.1:p.Gly645GlufsTer30
XR_001755695.1:n.3063_3064dup (PHEX)
NM_000444.6:c.2223_2224dup (PHEX) MANE Select	NP_000435.3:p.Gly742GlufsTer30
NM_001282754.2:c.*58_*59dup (PHEX)	NP_001269683.1:n.*58_*59dup