Canonical Allele Identifier: CA2419220746

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22248047_22248049delinsCTT , CM000685.2:g.22248047_22248049delinsCTT	GRCh38
NC_000023.10:g.22266164_22266166delinsCTT , CM000685.1:g.22266164_22266166delinsCTT	GRCh37
NC_000023.9:g.22176085_22176087delinsCTT	NCBI36
NG_007563.2:g.220244_220246delinsCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*282_*284delinsCTT (PHEX)	ENSP00000508059.1:n.*282_*284delinsCTT
ENST00000683289.1:c.624+20436_624+20438delinsCTT (PHEX)	ENSP00000508195.1:n.624+20436_624+20438delinsCTT
ENST00000683917.1:n.1128_1130delinsCTT (PHEX)
ENST00000684356.1:c.*94_*96delinsCTT (PHEX)	ENSP00000507619.1:n.*94_*96delinsCTT
ENST00000684745.1:n.2018_2020delinsCTT (PHEX)
ENST00000379374.5:c.*94_*96delinsCTT (PHEX) MANE Select	ENSP00000368682.4:n.*94_*96delinsCTT
ENST00000379374.4:c.*94_*96delinsCTT (PHEX)	ENSP00000368682.4:n.*94_*96delinsCTT
NM_000444.5:c.*94_*96delinsCTT (PHEX)	NP_000435.3:n.*94_*96delinsCTT
NM_001282754.1:c.*179_*181delinsCTT (PHEX)	NP_001269683.1:n.*179_*181delinsCTT
XM_011545533.1:c.*94_*96delinsCTT (PHEX)	XP_011543835.1:n.*94_*96delinsCTT
XM_011545534.1:c.*94_*96delinsCTT (PHEX)	XP_011543836.1:n.*94_*96delinsCTT
XM_011545536.1:c.*94_*96delinsCTT (PHEX)	XP_011543838.1:n.*94_*96delinsCTT
XR_950533.1:n.140+5890_140+5892delinsAAG
XR_950534.1:n.127+5890_127+5892delinsAAG
NR_073010.2:n.850+5890_850+5892delinsAAG (PTCHD1-AS)
XM_011545536.2:c.*94_*96delinsCTT (PHEX)	XP_011543838.1:n.*94_*96delinsCTT
XM_017029579.1:c.*94_*96delinsCTT (PHEX)	XP_016885068.1:n.*94_*96delinsCTT
XM_024452390.1:c.*94_*96delinsCTT (PHEX)	XP_024308158.1:n.*94_*96delinsCTT
XR_001755695.1:n.3184_3186delinsCTT (PHEX)
NM_000444.6:c.*94_*96delinsCTT (PHEX) MANE Select	NP_000435.3:n.*94_*96delinsCTT
NM_001282754.2:c.*179_*181delinsCTT (PHEX)	NP_001269683.1:n.*179_*181delinsCTT