Canonical Allele Identifier: CA2573158537

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 1421492
• ClinVar RCV Id: RCV001943808
• dbSNP Id: rs2147174326

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22221607_22221628dup , CM000685.2:g.22221607_22221628dup	GRCh38
NC_000023.10:g.22239724_22239745dup , CM000685.1:g.22239724_22239745dup	GRCh37
NC_000023.9:g.22149645_22149666dup	NCBI36
NG_007563.2:g.193804_193825dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682888.1:c.323-6_338dup (PHEX)
ENST00000683162.1:c.323-6_338dup (PHEX)
ENST00000683289.1:c.323-6_338dup (PHEX)
ENST00000683917.1:n.553-6_568dup (PHEX)
ENST00000684356.1:c.323-6_338dup (PHEX)
ENST00000684745.1:n.1443-6_1458dup (PHEX)
ENST00000379374.5:c.1769-6_1784dup (PHEX)
ENST00000379374.4:c.1769-6_1784dup (PHEX)
NM_000444.5:c.1769-6_1784dup (PHEX)
NM_001282754.1:c.1769-6_1784dup (PHEX)
XM_011545533.1:c.1013-6_1028dup (PHEX)
XM_011545534.1:c.1013-6_1028dup (PHEX)
XM_011545536.1:c.662-6_677dup (PHEX)
NR_073010.2:n.1048+5842_1048+5863dup (PTCHD1-AS)
XM_011545536.2:c.662-6_677dup (PHEX)
XM_017029579.1:c.1013-6_1028dup (PHEX)
XM_024452390.1:c.1478-6_1493dup (PHEX)
XR_001755695.1:n.2609-6_2624dup (PHEX)
NM_000444.6:c.1769-6_1784dup (PHEX)
NM_001282754.2:c.1769-6_1784dup (PHEX)