Canonical Allele Identifier: CA2419152342

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22047062_22047067delinsTAAGTA , CM000685.2:g.22047062_22047067delinsTAAGTA	GRCh38
NC_000023.10:g.22065180_22065185delinsTAAGTA , CM000685.1:g.22065180_22065185delinsTAAGTA	GRCh37
NC_000023.9:g.21975101_21975106delinsTAAGTA	NCBI36
NG_007563.2:g.19260_19265delinsTAAGTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.626_631delinsTAAGTA
ENST00000683214.1:n.544+13939_544+13944delinsTAAGTA
ENST00000684143.1:c.200_205delinsTAAGTA	ENSP00000508264.1:p.Leu67=
ENST00000379374.5:c.200_205delinsTAAGTA MANE Select	ENSP00000368682.4:p.Leu67=
ENST00000379374.4:c.200_205delinsTAAGTA	ENSP00000368682.4:p.Leu67=
NM_000444.5:c.200_205delinsTAAGTA	NP_000435.3:p.Leu67=
NM_001282754.1:c.200_205delinsTAAGTA	NP_001269683.1:p.Leu67=
XM_011545535.1:c.200_205delinsTAAGTA	XP_011543837.1:p.Leu67=
XM_024452390.1:c.-92_-87delinsTAAGTA	XP_024308158.1:n.-92_-87delinsTAAGTA
XR_001755695.1:n.879_884delinsTAAGTA
NM_000444.6:c.200_205delinsTAAGTA MANE Select	NP_000435.3:p.Leu67=
NM_001282754.2:c.200_205delinsTAAGTA	NP_001269683.1:p.Leu67=