Canonical Allele Identifier: CA2419152247

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22046726_22046727delinsCT , CM000685.2:g.22046726_22046727delinsCT	GRCh38
NC_000023.10:g.22064844_22064845delinsCT , CM000685.1:g.22064844_22064845delinsCT	GRCh37
NC_000023.9:g.21974765_21974766delinsCT	NCBI36
NG_007563.2:g.18924_18925delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.614-324_614-323delinsCT
ENST00000683214.1:n.544+13603_544+13604delinsCT
ENST00000684143.1:c.188-324_188-323delinsCT	ENSP00000508264.1:n.188-324_188-323delinsCT
ENST00000379374.5:c.188-324_188-323delinsCT MANE Select	ENSP00000368682.4:n.188-324_188-323delinsCT
ENST00000379374.4:c.188-324_188-323delinsCT	ENSP00000368682.4:n.188-324_188-323delinsCT
NM_000444.5:c.188-324_188-323delinsCT	NP_000435.3:n.188-324_188-323delinsCT
NM_001282754.1:c.188-324_188-323delinsCT	NP_001269683.1:n.188-324_188-323delinsCT
XM_011545535.1:c.188-324_188-323delinsCT	XP_011543837.1:n.188-324_188-323delinsCT
XM_024452390.1:c.-104-324_-104-323delinsCT	XP_024308158.1:n.-104-324_-104-323delinsCT
XR_001755695.1:n.867-324_867-323delinsCT
NM_000444.6:c.188-324_188-323delinsCT MANE Select	NP_000435.3:n.188-324_188-323delinsCT
NM_001282754.2:c.188-324_188-323delinsCT	NP_001269683.1:n.188-324_188-323delinsCT