Canonical Allele Identifier: CA2419220681

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247892_22247893delinsCT , CM000685.2:g.22247892_22247893delinsCT	GRCh38
NC_000023.10:g.22266009_22266010delinsCT , CM000685.1:g.22266009_22266010delinsCT	GRCh37
NC_000023.9:g.22175930_22175931delinsCT	NCBI36
NG_007563.2:g.220089_220090delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*127_*128delinsCT (PHEX)	ENSP00000508059.1:n.*127_*128delinsCT
ENST00000683289.1:c.624+20281_624+20282delinsCT (PHEX)	ENSP00000508195.1:n.624+20281_624+20282delinsCT
ENST00000683917.1:n.973_974delinsCT (PHEX)
ENST00000684356.1:c.743_744delinsCT (PHEX)	ENSP00000507619.1:p.Ala248=
ENST00000684745.1:n.1863_1864delinsCT (PHEX)
ENST00000379374.5:c.2189_2190delinsCT (PHEX) MANE Select	ENSP00000368682.4:p.Ala730=
ENST00000379374.4:c.2189_2190delinsCT (PHEX)	ENSP00000368682.4:p.Ala730=
NM_000444.5:c.2189_2190delinsCT (PHEX)	NP_000435.3:p.Ala730=
NM_001282754.1:c.*24_*25delinsCT (PHEX)	NP_001269683.1:n.*24_*25delinsCT
XM_011545533.1:c.1433_1434delinsCT (PHEX)	XP_011543835.1:p.Ala478=
XM_011545534.1:c.1433_1434delinsCT (PHEX)	XP_011543836.1:p.Ala478=
XM_011545536.1:c.1082_1083delinsCT (PHEX)	XP_011543838.1:p.Ala361=
XR_950533.1:n.140+6046_140+6047delinsAG
XR_950534.1:n.127+6046_127+6047delinsAG
NR_073010.2:n.850+6046_850+6047delinsAG (PTCHD1-AS)
XM_011545536.2:c.1082_1083delinsCT (PHEX)	XP_011543838.1:p.Ala361=
XM_017029579.1:c.1433_1434delinsCT (PHEX)	XP_016885068.1:p.Ala478=
XM_024452390.1:c.1898_1899delinsCT (PHEX)	XP_024308158.1:p.Ala633=
XR_001755695.1:n.3029_3030delinsCT (PHEX)
NM_000444.6:c.2189_2190delinsCT (PHEX) MANE Select	NP_000435.3:p.Ala730=
NM_001282754.2:c.*24_*25delinsCT (PHEX)	NP_001269683.1:n.*24_*25delinsCT