Canonical Allele Identifier: CA2419220680

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247891_22247892delinsGC , CM000685.2:g.22247891_22247892delinsGC	GRCh38
NC_000023.10:g.22266008_22266009delinsGC , CM000685.1:g.22266008_22266009delinsGC	GRCh37
NC_000023.9:g.22175929_22175930delinsGC	NCBI36
NG_007563.2:g.220088_220089delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*126_*127delinsGC (PHEX)	ENSP00000508059.1:n.*126_*127delinsGC
ENST00000683289.1:c.624+20280_624+20281delinsGC (PHEX)	ENSP00000508195.1:n.624+20280_624+20281delinsGC
ENST00000683917.1:n.972_973delinsGC (PHEX)
ENST00000684356.1:c.742_743delinsGC (PHEX)	ENSP00000507619.1:p.Ala248=
ENST00000684745.1:n.1862_1863delinsGC (PHEX)
ENST00000379374.5:c.2188_2189delinsGC (PHEX) MANE Select	ENSP00000368682.4:p.Ala730=
ENST00000379374.4:c.2188_2189delinsGC (PHEX)	ENSP00000368682.4:p.Ala730=
NM_000444.5:c.2188_2189delinsGC (PHEX)	NP_000435.3:p.Ala730=
NM_001282754.1:c.*23_*24delinsGC (PHEX)	NP_001269683.1:n.*23_*24delinsGC
XM_011545533.1:c.1432_1433delinsGC (PHEX)	XP_011543835.1:p.Ala478=
XM_011545534.1:c.1432_1433delinsGC (PHEX)	XP_011543836.1:p.Ala478=
XM_011545536.1:c.1081_1082delinsGC (PHEX)	XP_011543838.1:p.Ala361=
XR_950533.1:n.140+6047_140+6048delinsGC
XR_950534.1:n.127+6047_127+6048delinsGC
NR_073010.2:n.850+6047_850+6048delinsGC (PTCHD1-AS)
XM_011545536.2:c.1081_1082delinsGC (PHEX)	XP_011543838.1:p.Ala361=
XM_017029579.1:c.1432_1433delinsGC (PHEX)	XP_016885068.1:p.Ala478=
XM_024452390.1:c.1897_1898delinsGC (PHEX)	XP_024308158.1:p.Ala633=
XR_001755695.1:n.3028_3029delinsGC (PHEX)
NM_000444.6:c.2188_2189delinsGC (PHEX) MANE Select	NP_000435.3:p.Ala730=
NM_001282754.2:c.*23_*24delinsGC (PHEX)	NP_001269683.1:n.*23_*24delinsGC