Canonical Allele Identifier: CA916083862

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 844299
• ClinVar RCV Id: RCV001047114
• dbSNP Id: rs1935273095

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22221688_22221691dup , CM000685.2:g.22221688_22221691dup	GRCh38
NC_000023.10:g.22239805_22239808dup , CM000685.1:g.22239805_22239808dup	GRCh37
NC_000023.9:g.22149726_22149729dup	NCBI36
NG_007563.2:g.193885_193888dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682888.1:c.398_401dup (PHEX)	ENSP00000508003.1:p.Lys134AsnfsTer6
ENST00000683162.1:c.398_401dup (PHEX)	ENSP00000508059.1:p.Lys134AsnfsTer6
ENST00000683289.1:c.398_401dup (PHEX)	ENSP00000508195.1:p.Lys134AsnfsTer6
ENST00000683917.1:n.628_631dup (PHEX)
ENST00000684356.1:c.398_401dup (PHEX)	ENSP00000507619.1:p.Lys134AsnfsTer6
ENST00000684745.1:n.1518_1521dup (PHEX)
ENST00000379374.5:c.1844_1847dup (PHEX) MANE Select	ENSP00000368682.4:p.Lys616AsnfsTer6
ENST00000379374.4:c.1844_1847dup (PHEX)	ENSP00000368682.4:p.Lys616AsnfsTer6
NM_000444.5:c.1844_1847dup (PHEX)	NP_000435.3:p.Lys616AsnfsTer6
NM_001282754.1:c.1844_1847dup (PHEX)	NP_001269683.1:p.Lys616AsnfsTer6
XM_011545533.1:c.1088_1091dup (PHEX)	XP_011543835.1:p.Lys364AsnfsTer6
XM_011545534.1:c.1088_1091dup (PHEX)	XP_011543836.1:p.Lys364AsnfsTer6
XM_011545536.1:c.737_740dup (PHEX)	XP_011543838.1:p.Lys247AsnfsTer6
NR_073010.2:n.1048+5782_1048+5785dup (PTCHD1-AS)
XM_011545536.2:c.737_740dup (PHEX)	XP_011543838.1:p.Lys247AsnfsTer6
XM_017029579.1:c.1088_1091dup (PHEX)	XP_016885068.1:p.Lys364AsnfsTer6
XM_024452390.1:c.1553_1556dup (PHEX)	XP_024308158.1:p.Lys519AsnfsTer6
XR_001755695.1:n.2684_2687dup (PHEX)
NM_000444.6:c.1844_1847dup (PHEX) MANE Select	NP_000435.3:p.Lys616AsnfsTer6
NM_001282754.2:c.1844_1847dup (PHEX)	NP_001269683.1:p.Lys616AsnfsTer6