Canonical Allele Identifier: CA10603717

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 280586
• ClinVar RCV Id: RCV000309078
• dbSNP Id: rs886041763
• MyVariant Identifiers: chrX:g.22239789_22239790dupAA (hg19) ; chrX:g.22221672_22221673dupAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22221672_22221673dup , CM000685.2:g.22221672_22221673dup	GRCh38
NC_000023.10:g.22239789_22239790dup , CM000685.1:g.22239789_22239790dup	GRCh37
NC_000023.9:g.22149710_22149711dup	NCBI36
NG_007563.2:g.193869_193870dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.382_383dup (PHEX)	ENSP00000508003.1:p.Phe129SerfsTer9
ENST00000683162.1:c.382_383dup (PHEX)	ENSP00000508059.1:p.Phe129SerfsTer9
ENST00000683289.1:c.382_383dup (PHEX)	ENSP00000508195.1:p.Phe129SerfsTer9
ENST00000683917.1:n.612_613dup (PHEX)
ENST00000684356.1:c.382_383dup (PHEX)	ENSP00000507619.1:p.Phe129SerfsTer9
ENST00000684745.1:n.1502_1503dup (PHEX)
ENST00000379374.5:c.1828_1829dup (PHEX) MANE Select	ENSP00000368682.4:p.Phe611SerfsTer9
ENST00000379374.4:c.1828_1829dup (PHEX)	ENSP00000368682.4:p.Phe611SerfsTer9
NM_000444.5:c.1828_1829dup (PHEX)	NP_000435.3:p.Phe611SerfsTer9
NM_001282754.1:c.1828_1829dup (PHEX)	NP_001269683.1:p.Phe611SerfsTer9
XM_011545533.1:c.1072_1073dup (PHEX)	XP_011543835.1:p.Phe359SerfsTer9
XM_011545534.1:c.1072_1073dup (PHEX)	XP_011543836.1:p.Phe359SerfsTer9
XM_011545536.1:c.721_722dup (PHEX)	XP_011543838.1:p.Phe242SerfsTer9
NR_073010.2:n.1048+5799_1048+5800dup (PTCHD1-AS)
XM_011545536.2:c.721_722dup (PHEX)	XP_011543838.1:p.Phe242SerfsTer9
XM_017029579.1:c.1072_1073dup (PHEX)	XP_016885068.1:p.Phe359SerfsTer9
XM_024452390.1:c.1537_1538dup (PHEX)	XP_024308158.1:p.Phe514SerfsTer9
XR_001755695.1:n.2668_2669dup (PHEX)
NM_000444.6:c.1828_1829dup (PHEX) MANE Select	NP_000435.3:p.Phe611SerfsTer9
NM_001282754.2:c.1828_1829dup (PHEX)	NP_001269683.1:p.Phe611SerfsTer9