Canonical Allele Identifier: CA2695231808

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22226503_22226510dup , CM000685.2:g.22226503_22226510dup	GRCh38
NC_000023.10:g.22244620_22244627dup , CM000685.1:g.22244620_22244627dup	GRCh37
NC_000023.9:g.22154541_22154548dup	NCBI36
NG_007563.2:g.198700_198707dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000683162.1:c.514_519+2dup (PHEX)
ENST00000683289.1:c.514_519+2dup (PHEX)
ENST00000683917.1:n.744_749+2dup (PHEX)
ENST00000684356.1:c.514_519+2dup (PHEX)
ENST00000684745.1:n.1634_1639+2dup (PHEX)
ENST00000379374.5:c.1960_1965+2dup (PHEX)
ENST00000379374.4:c.1960_1965+2dup (PHEX)
NM_000444.5:c.1960_1965+2dup (PHEX)
NM_001282754.1:c.1960_1965+2dup (PHEX)
XM_011545533.1:c.1204_1209+2dup (PHEX)
XM_011545534.1:c.1204_1209+2dup (PHEX)
XM_011545536.1:c.853_858+2dup (PHEX)
XR_950534.1:n.326-486_326-479dup
NR_073010.2:n.1048+961_1048+968dup (PTCHD1-AS)
XM_011545536.2:c.853_858+2dup (PHEX)
XM_017029579.1:c.1204_1209+2dup (PHEX)
XM_024452390.1:c.1669_1674+2dup (PHEX)
XR_001755695.1:n.2800_2805+2dup (PHEX)
NM_000444.6:c.1960_1965+2dup (PHEX)
NM_001282754.2:c.1960_1965+2dup (PHEX)