Canonical Allele Identifier: CA2695231846

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247940dup , CM000685.2:g.22247940dup	GRCh38
NC_000023.10:g.22266057dup , CM000685.1:g.22266057dup	GRCh37
NC_000023.9:g.22175978dup	NCBI36
NG_007563.2:g.220137dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*175dup (PHEX)	ENSP00000508059.1:n.*175dup
ENST00000683289.1:c.624+20329dup (PHEX)	ENSP00000508195.1:n.624+20329dup
ENST00000683917.1:n.1021dup (PHEX)
ENST00000684356.1:c.791dup (PHEX)	ENSP00000507619.1:p.Cys264TrpfsTer?
ENST00000684745.1:n.1911dup (PHEX)
ENST00000379374.5:c.2237dup (PHEX) MANE Select	ENSP00000368682.4:p.Cys746TrpfsTer?
ENST00000379374.4:c.2237dup (PHEX)	ENSP00000368682.4:p.Cys746TrpfsTer?
NM_000444.5:c.2237dup (PHEX)	NP_000435.3:p.Cys746TrpfsTer?
NM_001282754.1:c.*72dup (PHEX)	NP_001269683.1:n.*72dup
XM_011545533.1:c.1481dup (PHEX)	XP_011543835.1:p.Cys494TrpfsTer?
XM_011545534.1:c.1481dup (PHEX)	XP_011543836.1:p.Cys494TrpfsTer?
XM_011545536.1:c.1130dup (PHEX)	XP_011543838.1:p.Cys377TrpfsTer?
XR_950533.1:n.140+5999dup
XR_950534.1:n.127+5999dup
NR_073010.2:n.850+5999dup (PTCHD1-AS)
XM_011545536.2:c.1130dup (PHEX)	XP_011543838.1:p.Cys377TrpfsTer?
XM_017029579.1:c.1481dup (PHEX)	XP_016885068.1:p.Cys494TrpfsTer?
XM_024452390.1:c.1946dup (PHEX)	XP_024308158.1:p.Cys649TrpfsTer?
XR_001755695.1:n.3077dup (PHEX)
NM_000444.6:c.2237dup (PHEX) MANE Select	NP_000435.3:p.Cys746TrpfsTer?
NM_001282754.2:c.*72dup (PHEX)	NP_001269683.1:n.*72dup