Canonical Allele Identifier: CA2419152399

Gene: PHEX

Linked Data

• ClinVar Variation Id: 999768
• ClinVar RCV Id: RCV001295805
• dbSNP Id: rs1927584800

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22047213dup , CM000685.2:g.22047213dup	GRCh38
NC_000023.10:g.22065331dup , CM000685.1:g.22065331dup	GRCh37
NC_000023.9:g.21975252dup	NCBI36
NG_007563.2:g.19411dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.775+2dup
ENST00000683214.1:n.544+14090dup
ENST00000684143.1:c.349+2dup	ENSP00000508264.1:n.349+2dup
ENST00000379374.5:c.349+2dup MANE Select	ENSP00000368682.4:n.349+2dup
ENST00000379374.4:c.349+2dup	ENSP00000368682.4:n.349+2dup
NM_000444.5:c.349+2dup	NP_000435.3:n.349+2dup
NM_001282754.1:c.349+2dup	NP_001269683.1:n.349+2dup
XM_011545535.1:c.349+2dup	XP_011543837.1:n.349+2dup
XM_017029579.1:c.-94+2dup	XP_016885068.1:n.-94+2dup
XM_024452390.1:c.58+2dup	XP_024308158.1:n.58+2dup
XR_001755695.1:n.1028+2dup
NM_000444.6:c.349+2dup MANE Select	NP_000435.3:n.349+2dup
NM_001282754.2:c.349+2dup	NP_001269683.1:n.349+2dup