Canonical Allele Identifier: CA2695232358

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22221676_22221677dup , CM000685.2:g.22221676_22221677dup	GRCh38
NC_000023.10:g.22239793_22239794dup , CM000685.1:g.22239793_22239794dup	GRCh37
NC_000023.9:g.22149714_22149715dup	NCBI36
NG_007563.2:g.193873_193874dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.386_387dup (PHEX)	ENSP00000508003.1:p.Lys130LeufsTer8
ENST00000683162.1:c.386_387dup (PHEX)	ENSP00000508059.1:p.Lys130LeufsTer8
ENST00000683289.1:c.386_387dup (PHEX)	ENSP00000508195.1:p.Lys130LeufsTer8
ENST00000683917.1:n.616_617dup (PHEX)
ENST00000684356.1:c.386_387dup (PHEX)	ENSP00000507619.1:p.Lys130LeufsTer8
ENST00000684745.1:n.1506_1507dup (PHEX)
ENST00000379374.5:c.1832_1833dup (PHEX) MANE Select	ENSP00000368682.4:p.Lys612LeufsTer8
ENST00000379374.4:c.1832_1833dup (PHEX)	ENSP00000368682.4:p.Lys612LeufsTer8
NM_000444.5:c.1832_1833dup (PHEX)	NP_000435.3:p.Lys612LeufsTer8
NM_001282754.1:c.1832_1833dup (PHEX)	NP_001269683.1:p.Lys612LeufsTer8
XM_011545533.1:c.1076_1077dup (PHEX)	XP_011543835.1:p.Lys360LeufsTer8
XM_011545534.1:c.1076_1077dup (PHEX)	XP_011543836.1:p.Lys360LeufsTer8
XM_011545536.1:c.725_726dup (PHEX)	XP_011543838.1:p.Lys243LeufsTer8
NR_073010.2:n.1048+5794_1048+5795dup (PTCHD1-AS)
XM_011545536.2:c.725_726dup (PHEX)	XP_011543838.1:p.Lys243LeufsTer8
XM_017029579.1:c.1076_1077dup (PHEX)	XP_016885068.1:p.Lys360LeufsTer8
XM_024452390.1:c.1541_1542dup (PHEX)	XP_024308158.1:p.Lys515LeufsTer8
XR_001755695.1:n.2672_2673dup (PHEX)
NM_000444.6:c.1832_1833dup (PHEX) MANE Select	NP_000435.3:p.Lys612LeufsTer8
NM_001282754.2:c.1832_1833dup (PHEX)	NP_001269683.1:p.Lys612LeufsTer8