Canonical Allele Identifier: CA2499226572

Gene: PHEX

Linked Data

• dbSNP Id: rs2147043653

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22096992_22096993insA , CM000685.2:g.22096992_22096993insA	GRCh38
NC_000023.10:g.22115110_22115111insA , CM000685.1:g.22115110_22115111insA	GRCh37
NC_000023.9:g.22025031_22025032insA	NCBI36
NG_007563.2:g.69190_69191insA

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.1313_1314insA
ENST00000684143.1:c.884_885insA	ENSP00000508264.1:p.Met295IlefsTer9
ENST00000684745.1:n.561_562insA
ENST00000379374.5:c.887_888insA MANE Select	ENSP00000368682.4:p.Met296IlefsTer9
ENST00000379374.4:c.887_888insA	ENSP00000368682.4:p.Met296IlefsTer9
ENST00000475778.1:n.160_161insA
NM_000444.5:c.887_888insA	NP_000435.3:p.Met296IlefsTer9
NM_001282754.1:c.887_888insA	NP_001269683.1:p.Met296IlefsTer9
XM_011545533.1:c.131_132insA	XP_011543835.1:p.Met44IlefsTer9
XM_011545534.1:c.131_132insA	XP_011543836.1:p.Met44IlefsTer9
XM_011545535.1:c.887_888insA	XP_011543837.1:p.Met296IlefsTer9
XM_017029579.1:c.131_132insA	XP_016885068.1:p.Met44IlefsTer9
XM_024452390.1:c.596_597insA	XP_024308158.1:p.Met199IlefsTer9
XR_001755695.1:n.1566_1567insA
NM_000444.6:c.887_888insA MANE Select	NP_000435.3:p.Met296IlefsTer9
NM_001282754.2:c.887_888insA	NP_001269683.1:p.Met296IlefsTer9