Canonical Allele Identifier: CA2419220698

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247941_22247955delinsCCGACTCTGGTAGCT , CM000685.2:g.22247941_22247955delinsCCGACTCTGGTAGCT	GRCh38
NC_000023.10:g.22266058_22266072delinsCCGACTCTGGTAGCT , CM000685.1:g.22266058_22266072delinsCCGACTCTGGTAGCT	GRCh37
NC_000023.9:g.22175979_22175993delinsCCGACTCTGGTAGCT	NCBI36
NG_007563.2:g.220138_220152delinsCCGACTCTGGTAGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*176_*190delinsCCGACTCTGGTAGCT (PHEX)	ENSP00000508059.1:n.*176_*190delinsCCGACTCTGGTAGCT
ENST00000683289.1:c.624+20330_624+20344delinsCCGACTCTGGTAGCT (PHEX)	ENSP00000508195.1:n.624+20330_624+20344delinsCCGACTCTGGTAGCT
ENST00000683917.1:n.1022_1036delinsCCGACTCTGGTAGCT (PHEX)
ENST00000684356.1:c.792_*2delinsCCGACTCTGGTAGCT (PHEX)	ENSP00000507619.1:n.[c.792_*2delinsCCGACTCTGGTAGCT;Cys264=]
ENST00000684745.1:n.1912_1926delinsCCGACTCTGGTAGCT (PHEX)
ENST00000379374.5:c.2238_*2delinsCCGACTCTGGTAGCT (PHEX) MANE Select	ENSP00000368682.4:n.[c.2238_*2delinsCCGACTCTGGTAGCT;Cys746=]
ENST00000379374.4:c.2238_*2delinsCCGACTCTGGTAGCT (PHEX)	ENSP00000368682.4:n.[c.2238_*2delinsCCGACTCTGGTAGCT;Cys746=]
NM_000444.5:c.2238_*2delinsCCGACTCTGGTAGCT (PHEX)	NP_000435.3:n.[c.2238_*2delinsCCGACTCTGGTAGCT;Cys746=]
NM_001282754.1:c.*73_*87delinsCCGACTCTGGTAGCT (PHEX)	NP_001269683.1:n.*73_*87delinsCCGACTCTGGTAGCT
XM_011545533.1:c.1482_*2delinsCCGACTCTGGTAGCT (PHEX)	XP_011543835.1:n.[c.1482_*2delinsCCGACTCTGGTAGCT;Cys494=]
XM_011545534.1:c.1482_*2delinsCCGACTCTGGTAGCT (PHEX)	XP_011543836.1:n.[c.1482_*2delinsCCGACTCTGGTAGCT;Cys494=]
XM_011545536.1:c.1131_*2delinsCCGACTCTGGTAGCT (PHEX)	XP_011543838.1:n.[c.1131_*2delinsCCGACTCTGGTAGCT;Cys377=]
XR_950533.1:n.140+5984_140+5998delinsAGCTACCAGAGTCGG
XR_950534.1:n.127+5984_127+5998delinsAGCTACCAGAGTCGG
NR_073010.2:n.850+5984_850+5998delinsAGCTACCAGAGTCGG (PTCHD1-AS)
XM_011545536.2:c.1131_*2delinsCCGACTCTGGTAGCT (PHEX)	XP_011543838.1:n.[c.1131_*2delinsCCGACTCTGGTAGCT;Cys377=]
XM_017029579.1:c.1482_*2delinsCCGACTCTGGTAGCT (PHEX)	XP_016885068.1:n.[c.1482_*2delinsCCGACTCTGGTAGCT;Cys494=]
XM_024452390.1:c.1947_*2delinsCCGACTCTGGTAGCT (PHEX)	XP_024308158.1:n.[c.1947_*2delinsCCGACTCTGGTAGCT;Cys649=]
XR_001755695.1:n.3078_3092delinsCCGACTCTGGTAGCT (PHEX)
NM_000444.6:c.2238_*2delinsCCGACTCTGGTAGCT (PHEX) MANE Select	NP_000435.3:n.[c.2238_*2delinsCCGACTCTGGTAGCT;Cys746=]
NM_001282754.2:c.*73_*87delinsCCGACTCTGGTAGCT (PHEX)	NP_001269683.1:n.*73_*87delinsCCGACTCTGGTAGCT