Canonical Allele Identifier: CA645509400

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 438499
• ClinVar RCV Id: RCV000505441
• dbSNP Id: rs1556206093
• MyVariant Identifiers: chrX:g.22266019_22266037dup (hg19) ; chrX:g.22247902_22247920dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247902_22247920dup , CM000685.2:g.22247902_22247920dup	GRCh38
NC_000023.10:g.22266019_22266037dup , CM000685.1:g.22266019_22266037dup	GRCh37
NC_000023.9:g.22175940_22175958dup	NCBI36
NG_007563.2:g.220099_220117dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*137_*155dup (PHEX)	ENSP00000508059.1:n.*137_*155dup
ENST00000683289.1:c.624+20291_624+20309dup (PHEX)	ENSP00000508195.1:n.624+20291_624+20309dup
ENST00000683917.1:n.983_1001dup (PHEX)
ENST00000684356.1:c.753_771dup (PHEX)	ENSP00000507619.1:p.Asn258SerfsTer?
ENST00000684745.1:n.1873_1891dup (PHEX)
ENST00000379374.5:c.2199_2217dup (PHEX) MANE Select	ENSP00000368682.4:p.Asn740SerfsTer?
ENST00000379374.4:c.2199_2217dup (PHEX)	ENSP00000368682.4:p.Asn740SerfsTer?
NM_000444.5:c.2199_2217dup (PHEX)	NP_000435.3:p.Asn740SerfsTer?
NM_001282754.1:c.*34_*52dup (PHEX)	NP_001269683.1:n.*34_*52dup
XM_011545533.1:c.1443_1461dup (PHEX)	XP_011543835.1:p.Asn488SerfsTer?
XM_011545534.1:c.1443_1461dup (PHEX)	XP_011543836.1:p.Asn488SerfsTer?
XM_011545536.1:c.1092_1110dup (PHEX)	XP_011543838.1:p.Asn371SerfsTer?
XR_950533.1:n.140+6021_140+6039dup
XR_950534.1:n.127+6021_127+6039dup
NR_073010.2:n.850+6021_850+6039dup (PTCHD1-AS)
XM_011545536.2:c.1092_1110dup (PHEX)	XP_011543838.1:p.Asn371SerfsTer?
XM_017029579.1:c.1443_1461dup (PHEX)	XP_016885068.1:p.Asn488SerfsTer?
XM_024452390.1:c.1908_1926dup (PHEX)	XP_024308158.1:p.Asn643SerfsTer?
XR_001755695.1:n.3039_3057dup (PHEX)
NM_000444.6:c.2199_2217dup (PHEX) MANE Select	NP_000435.3:p.Asn740SerfsTer?
NM_001282754.2:c.*34_*52dup (PHEX)	NP_001269683.1:n.*34_*52dup