Canonical Allele Identifier: CA645369751

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 429875
• ClinVar RCV Id: RCV000494498
• dbSNP Id: rs1131691645
• MyVariant Identifiers: chrX:g.22239789_22239793dup (hg19) ; chrX:g.22221672_22221676dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22221672_22221676dup , CM000685.2:g.22221672_22221676dup	GRCh38
NC_000023.10:g.22239789_22239793dup , CM000685.1:g.22239789_22239793dup	GRCh37
NC_000023.9:g.22149710_22149714dup	NCBI36
NG_007563.2:g.193869_193873dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682888.1:c.382_386dup (PHEX)	ENSP00000508003.1:p.Phe129LeufsTer10
ENST00000683162.1:c.382_386dup (PHEX)	ENSP00000508059.1:p.Phe129LeufsTer10
ENST00000683289.1:c.382_386dup (PHEX)	ENSP00000508195.1:p.Phe129LeufsTer10
ENST00000683917.1:n.612_616dup (PHEX)
ENST00000684356.1:c.382_386dup (PHEX)	ENSP00000507619.1:p.Phe129LeufsTer10
ENST00000684745.1:n.1502_1506dup (PHEX)
ENST00000379374.5:c.1828_1832dup (PHEX) MANE Select	ENSP00000368682.4:p.Phe611LeufsTer10
ENST00000379374.4:c.1828_1832dup (PHEX)	ENSP00000368682.4:p.Phe611LeufsTer10
NM_000444.5:c.1828_1832dup (PHEX)	NP_000435.3:p.Phe611LeufsTer10
NM_001282754.1:c.1828_1832dup (PHEX)	NP_001269683.1:p.Phe611LeufsTer10
XM_011545533.1:c.1072_1076dup (PHEX)	XP_011543835.1:p.Phe359LeufsTer10
XM_011545534.1:c.1072_1076dup (PHEX)	XP_011543836.1:p.Phe359LeufsTer10
XM_011545536.1:c.721_725dup (PHEX)	XP_011543838.1:p.Phe242LeufsTer10
NR_073010.2:n.1048+5794_1048+5798dup (PTCHD1-AS)
XM_011545536.2:c.721_725dup (PHEX)	XP_011543838.1:p.Phe242LeufsTer10
XM_017029579.1:c.1072_1076dup (PHEX)	XP_016885068.1:p.Phe359LeufsTer10
XM_024452390.1:c.1537_1541dup (PHEX)	XP_024308158.1:p.Phe514LeufsTer10
XR_001755695.1:n.2668_2672dup (PHEX)
NM_000444.6:c.1828_1832dup (PHEX) MANE Select	NP_000435.3:p.Phe611LeufsTer10
NM_001282754.2:c.1828_1832dup (PHEX)	NP_001269683.1:p.Phe611LeufsTer10