Canonical Allele Identifier: CA2695231498

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22096993delinsAT , CM000685.2:g.22096993delinsAT	GRCh38
NC_000023.10:g.22115111delinsAT , CM000685.1:g.22115111delinsAT	GRCh37
NC_000023.9:g.22025032delinsAT	NCBI36
NG_007563.2:g.69191delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.1314delinsAT
ENST00000684143.1:c.885delinsAT	ENSP00000508264.1:p.Met295IlefsTer9
ENST00000684745.1:n.562delinsAT
ENST00000379374.5:c.888delinsAT MANE Select	ENSP00000368682.4:p.Met296IlefsTer9
ENST00000379374.4:c.888delinsAT	ENSP00000368682.4:p.Met296IlefsTer9
ENST00000475778.1:n.161delinsAT
NM_000444.5:c.888delinsAT	NP_000435.3:p.Met296IlefsTer9
NM_001282754.1:c.888delinsAT	NP_001269683.1:p.Met296IlefsTer9
XM_011545533.1:c.132delinsAT	XP_011543835.1:p.Met44IlefsTer9
XM_011545534.1:c.132delinsAT	XP_011543836.1:p.Met44IlefsTer9
XM_011545535.1:c.888delinsAT	XP_011543837.1:p.Met296IlefsTer9
XM_017029579.1:c.132delinsAT	XP_016885068.1:p.Met44IlefsTer9
XM_024452390.1:c.597delinsAT	XP_024308158.1:p.Met199IlefsTer9
XR_001755695.1:n.1567delinsAT
NM_000444.6:c.888delinsAT MANE Select	NP_000435.3:p.Met296IlefsTer9
NM_001282754.2:c.888delinsAT	NP_001269683.1:p.Met296IlefsTer9