Canonical Allele Identifier: CA2419220756

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22248085_22248086delinsAC , CM000685.2:g.22248085_22248086delinsAC	GRCh38
NC_000023.10:g.22266202_22266203delinsAC , CM000685.1:g.22266202_22266203delinsAC	GRCh37
NC_000023.9:g.22176123_22176124delinsAC	NCBI36
NG_007563.2:g.220282_220283delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*320_*321delinsAC (PHEX)	ENSP00000508059.1:n.*320_*321delinsAC
ENST00000683289.1:c.624+20474_624+20475delinsAC (PHEX)	ENSP00000508195.1:n.624+20474_624+20475delinsAC
ENST00000683917.1:n.1158+8_1158+9delinsAC (PHEX)
ENST00000684356.1:c.*132_*133delinsAC (PHEX)	ENSP00000507619.1:n.*132_*133delinsAC
ENST00000684745.1:n.2056_2057delinsAC (PHEX)
ENST00000379374.5:c.*132_*133delinsAC (PHEX) MANE Select	ENSP00000368682.4:n.*132_*133delinsAC
ENST00000379374.4:c.*132_*133delinsAC (PHEX)	ENSP00000368682.4:n.*132_*133delinsAC
NM_000444.5:c.*132_*133delinsAC (PHEX)	NP_000435.3:n.*132_*133delinsAC
NM_001282754.1:c.*217_*218delinsAC (PHEX)	NP_001269683.1:n.*217_*218delinsAC
XM_011545533.1:c.*132_*133delinsAC (PHEX)	XP_011543835.1:n.*132_*133delinsAC
XM_011545534.1:c.*132_*133delinsAC (PHEX)	XP_011543836.1:n.*132_*133delinsAC
XM_011545536.1:c.*132_*133delinsAC (PHEX)	XP_011543838.1:n.*132_*133delinsAC
XR_950533.1:n.140+5853_140+5854delinsGT
XR_950534.1:n.127+5853_127+5854delinsGT
NR_073010.2:n.850+5853_850+5854delinsGT (PTCHD1-AS)
XM_011545536.2:c.*132_*133delinsAC (PHEX)	XP_011543838.1:n.*132_*133delinsAC
XM_017029579.1:c.*132_*133delinsAC (PHEX)	XP_016885068.1:n.*132_*133delinsAC
XM_024452390.1:c.*132_*133delinsAC (PHEX)	XP_024308158.1:n.*132_*133delinsAC
XR_001755695.1:n.3222_3223delinsAC (PHEX)
NM_000444.6:c.*132_*133delinsAC (PHEX) MANE Select	NP_000435.3:n.*132_*133delinsAC
NM_001282754.2:c.*217_*218delinsAC (PHEX)	NP_001269683.1:n.*217_*218delinsAC