Canonical Allele Identifier: CA2693304757

Gene: PHEX

Linked Data

• gnomAD v4: X-22094140-T-TTTTCTTTTCCTTTAC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22094154_22094168dup , CM000685.2:g.22094154_22094168dup	GRCh38
NC_000023.10:g.22112272_22112286dup , CM000685.1:g.22112272_22112286dup	GRCh37
NC_000023.9:g.22022193_22022207dup	NCBI36
NG_007563.2:g.66352_66366dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1275+55_1275+69dup
ENST00000684143.1:c.846+55_846+69dup	ENSP00000508264.1:n.846+55_846+69dup
ENST00000684745.1:n.523+55_523+69dup
ENST00000379374.5:c.849+55_849+69dup MANE Select	ENSP00000368682.4:n.849+55_849+69dup
ENST00000379374.4:c.849+55_849+69dup	ENSP00000368682.4:n.849+55_849+69dup
ENST00000475778.1:n.122+55_122+69dup
NM_000444.5:c.849+55_849+69dup	NP_000435.3:n.849+55_849+69dup
NM_001282754.1:c.849+55_849+69dup	NP_001269683.1:n.849+55_849+69dup
XM_011545533.1:c.93+55_93+69dup	XP_011543835.1:n.93+55_93+69dup
XM_011545534.1:c.93+55_93+69dup	XP_011543836.1:n.93+55_93+69dup
XM_011545535.1:c.849+55_849+69dup	XP_011543837.1:n.849+55_849+69dup
XM_017029579.1:c.93+55_93+69dup	XP_016885068.1:n.93+55_93+69dup
XM_024452390.1:c.558+55_558+69dup	XP_024308158.1:n.558+55_558+69dup
XR_001755695.1:n.1528+55_1528+69dup
NM_000444.6:c.849+55_849+69dup MANE Select	NP_000435.3:n.849+55_849+69dup
NM_001282754.2:c.849+55_849+69dup	NP_001269683.1:n.849+55_849+69dup