Canonical Allele Identifier: CA2419220701

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247944_22247946delinsACT , CM000685.2:g.22247944_22247946delinsACT	GRCh38
NC_000023.10:g.22266061_22266063delinsACT , CM000685.1:g.22266061_22266063delinsACT	GRCh37
NC_000023.9:g.22175982_22175984delinsACT	NCBI36
NG_007563.2:g.220141_220143delinsACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*179_*181delinsACT (PHEX)	ENSP00000508059.1:n.*179_*181delinsACT
ENST00000683289.1:c.624+20333_624+20335delinsACT (PHEX)	ENSP00000508195.1:n.624+20333_624+20335delinsACT
ENST00000683917.1:n.1025_1027delinsACT (PHEX)
ENST00000684356.1:c.795_797delinsACT (PHEX)	ENSP00000507619.1:p.Arg265=
ENST00000684745.1:n.1915_1917delinsACT (PHEX)
ENST00000379374.5:c.2241_2243delinsACT (PHEX) MANE Select	ENSP00000368682.4:p.Arg747=
ENST00000379374.4:c.2241_2243delinsACT (PHEX)	ENSP00000368682.4:p.Arg747=
NM_000444.5:c.2241_2243delinsACT (PHEX)	NP_000435.3:p.Arg747=
NM_001282754.1:c.*76_*78delinsACT (PHEX)	NP_001269683.1:n.*76_*78delinsACT
XM_011545533.1:c.1485_1487delinsACT (PHEX)	XP_011543835.1:p.Arg495=
XM_011545534.1:c.1485_1487delinsACT (PHEX)	XP_011543836.1:p.Arg495=
XM_011545536.1:c.1134_1136delinsACT (PHEX)	XP_011543838.1:p.Arg378=
XR_950533.1:n.140+5993_140+5995delinsAGT
XR_950534.1:n.127+5993_127+5995delinsAGT
NR_073010.2:n.850+5993_850+5995delinsAGT (PTCHD1-AS)
XM_011545536.2:c.1134_1136delinsACT (PHEX)	XP_011543838.1:p.Arg378=
XM_017029579.1:c.1485_1487delinsACT (PHEX)	XP_016885068.1:p.Arg495=
XM_024452390.1:c.1950_1952delinsACT (PHEX)	XP_024308158.1:p.Arg650=
XR_001755695.1:n.3081_3083delinsACT (PHEX)
NM_000444.6:c.2241_2243delinsACT (PHEX) MANE Select	NP_000435.3:p.Arg747=
NM_001282754.2:c.*76_*78delinsACT (PHEX)	NP_001269683.1:n.*76_*78delinsACT