Canonical Allele Identifier: CA2419220696

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247940_22247941delinsGC , CM000685.2:g.22247940_22247941delinsGC	GRCh38
NC_000023.10:g.22266057_22266058delinsGC , CM000685.1:g.22266057_22266058delinsGC	GRCh37
NC_000023.9:g.22175978_22175979delinsGC	NCBI36
NG_007563.2:g.220137_220138delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*175_*176delinsGC (PHEX)	ENSP00000508059.1:n.*175_*176delinsGC
ENST00000683289.1:c.624+20329_624+20330delinsGC (PHEX)	ENSP00000508195.1:n.624+20329_624+20330delinsGC
ENST00000683917.1:n.1021_1022delinsGC (PHEX)
ENST00000684356.1:c.791_792delinsGC (PHEX)	ENSP00000507619.1:p.Cys264=
ENST00000684745.1:n.1911_1912delinsGC (PHEX)
ENST00000379374.5:c.2237_2238delinsGC (PHEX) MANE Select	ENSP00000368682.4:p.Cys746=
ENST00000379374.4:c.2237_2238delinsGC (PHEX)	ENSP00000368682.4:p.Cys746=
NM_000444.5:c.2237_2238delinsGC (PHEX)	NP_000435.3:p.Cys746=
NM_001282754.1:c.*72_*73delinsGC (PHEX)	NP_001269683.1:n.*72_*73delinsGC
XM_011545533.1:c.1481_1482delinsGC (PHEX)	XP_011543835.1:p.Cys494=
XM_011545534.1:c.1481_1482delinsGC (PHEX)	XP_011543836.1:p.Cys494=
XM_011545536.1:c.1130_1131delinsGC (PHEX)	XP_011543838.1:p.Cys377=
XR_950533.1:n.140+5998_140+5999delinsGC
XR_950534.1:n.127+5998_127+5999delinsGC
NR_073010.2:n.850+5998_850+5999delinsGC (PTCHD1-AS)
XM_011545536.2:c.1130_1131delinsGC (PHEX)	XP_011543838.1:p.Cys377=
XM_017029579.1:c.1481_1482delinsGC (PHEX)	XP_016885068.1:p.Cys494=
XM_024452390.1:c.1946_1947delinsGC (PHEX)	XP_024308158.1:p.Cys649=
XR_001755695.1:n.3077_3078delinsGC (PHEX)
NM_000444.6:c.2237_2238delinsGC (PHEX) MANE Select	NP_000435.3:p.Cys746=
NM_001282754.2:c.*72_*73delinsGC (PHEX)	NP_001269683.1:n.*72_*73delinsGC