Canonical Allele Identifier: CA2419167620

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22094025_22094026delinsCT , CM000685.2:g.22094025_22094026delinsCT	GRCh38
NC_000023.10:g.22112143_22112144delinsCT , CM000685.1:g.22112143_22112144delinsCT	GRCh37
NC_000023.9:g.22022064_22022065delinsCT	NCBI36
NG_007563.2:g.66223_66224delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1201_1202delinsCT
ENST00000684143.1:c.772_773delinsCT	ENSP00000508264.1:p.Leu258=
ENST00000684745.1:n.449_450delinsCT
ENST00000379374.5:c.775_776delinsCT MANE Select	ENSP00000368682.4:p.Leu259=
ENST00000379374.4:c.775_776delinsCT	ENSP00000368682.4:p.Leu259=
ENST00000475778.1:n.48_49delinsCT
NM_000444.5:c.775_776delinsCT	NP_000435.3:p.Leu259=
NM_001282754.1:c.775_776delinsCT	NP_001269683.1:p.Leu259=
XM_011545533.1:c.19_20delinsCT	XP_011543835.1:p.Leu7=
XM_011545534.1:c.19_20delinsCT	XP_011543836.1:p.Leu7=
XM_011545535.1:c.775_776delinsCT	XP_011543837.1:p.Leu259=
XM_017029579.1:c.19_20delinsCT	XP_016885068.1:p.Leu7=
XM_024452390.1:c.484_485delinsCT	XP_024308158.1:p.Leu162=
XR_001755695.1:n.1454_1455delinsCT
NM_000444.6:c.775_776delinsCT MANE Select	NP_000435.3:p.Leu259=
NM_001282754.2:c.775_776delinsCT	NP_001269683.1:p.Leu259=