Canonical Allele Identifier: CA2695231804

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22226479del , CM000685.2:g.22226479del	GRCh38
NC_000023.10:g.22244596del , CM000685.1:g.22244596del	GRCh37
NC_000023.9:g.22154517del	NCBI36
NG_007563.2:g.198676del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.490del (PHEX)	ENSP00000508003.1:p.Asp164IlefsTer?
ENST00000683162.1:c.490del (PHEX)	ENSP00000508059.1:p.Asp164IlefsTer16
ENST00000683289.1:c.490del (PHEX)	ENSP00000508195.1:p.Asp164IlefsTer16
ENST00000683917.1:n.720del (PHEX)
ENST00000684356.1:c.490del (PHEX)	ENSP00000507619.1:p.Asp164IlefsTer16
ENST00000684745.1:n.1610del (PHEX)
ENST00000379374.5:c.1936del (PHEX) MANE Select	ENSP00000368682.4:p.Asp646IlefsTer16
ENST00000379374.4:c.1936del (PHEX)	ENSP00000368682.4:p.Asp646IlefsTer16
NM_000444.5:c.1936del (PHEX)	NP_000435.3:p.Asp646IlefsTer16
NM_001282754.1:c.1936del (PHEX)	NP_001269683.1:p.Asp646IlefsTer16
XM_011545533.1:c.1180del (PHEX)	XP_011543835.1:p.Asp394IlefsTer16
XM_011545534.1:c.1180del (PHEX)	XP_011543836.1:p.Asp394IlefsTer16
XM_011545536.1:c.829del (PHEX)	XP_011543838.1:p.Asp277IlefsTer16
XR_950534.1:n.326-456del
NR_073010.2:n.1048+991del (PTCHD1-AS)
XM_011545536.2:c.829del (PHEX)	XP_011543838.1:p.Asp277IlefsTer16
XM_017029579.1:c.1180del (PHEX)	XP_016885068.1:p.Asp394IlefsTer16
XM_024452390.1:c.1645del (PHEX)	XP_024308158.1:p.Asp549IlefsTer16
XR_001755695.1:n.2776del (PHEX)
NM_000444.6:c.1936del (PHEX) MANE Select	NP_000435.3:p.Asp646IlefsTer16
NM_001282754.2:c.1936del (PHEX)	NP_001269683.1:p.Asp646IlefsTer16