Canonical Allele Identifier: CA2695231807

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22226505dup , CM000685.2:g.22226505dup	GRCh38
NC_000023.10:g.22244622dup , CM000685.1:g.22244622dup	GRCh37
NC_000023.9:g.22154543dup	NCBI36
NG_007563.2:g.198702dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682888.1:c.*1dup (PHEX)	ENSP00000508003.1:n.*1dup
ENST00000683162.1:c.516dup (PHEX)	ENSP00000508059.1:p.Arg173Ter
ENST00000683289.1:c.516dup (PHEX)	ENSP00000508195.1:p.Arg173Ter
ENST00000683917.1:n.746dup (PHEX)
ENST00000684356.1:c.516dup (PHEX)	ENSP00000507619.1:p.Arg173Ter
ENST00000684745.1:n.1636dup (PHEX)
ENST00000379374.5:c.1962dup (PHEX) MANE Select	ENSP00000368682.4:p.Arg655Ter
ENST00000379374.4:c.1962dup (PHEX)	ENSP00000368682.4:p.Arg655Ter
NM_000444.5:c.1962dup (PHEX)	NP_000435.3:p.Arg655Ter
NM_001282754.1:c.1962dup (PHEX)	NP_001269683.1:p.Arg655Ter
XM_011545533.1:c.1206dup (PHEX)	XP_011543835.1:p.Arg403Ter
XM_011545534.1:c.1206dup (PHEX)	XP_011543836.1:p.Arg403Ter
XM_011545536.1:c.855dup (PHEX)	XP_011543838.1:p.Arg286Ter
XR_950534.1:n.326-479dup
NR_073010.2:n.1048+968dup (PTCHD1-AS)
XM_011545536.2:c.855dup (PHEX)	XP_011543838.1:p.Arg286Ter
XM_017029579.1:c.1206dup (PHEX)	XP_016885068.1:p.Arg403Ter
XM_024452390.1:c.1671dup (PHEX)	XP_024308158.1:p.Arg558Ter
XR_001755695.1:n.2802dup (PHEX)
NM_000444.6:c.1962dup (PHEX) MANE Select	NP_000435.3:p.Arg655Ter
NM_001282754.2:c.1962dup (PHEX)	NP_001269683.1:p.Arg655Ter