Canonical Allele Identifier: CA1139667277

Gene: PHEX

Linked Data

• ClinVar Variation Id: 965515
• ClinVar RCV Id: RCV001239984
• dbSNP Id: rs1927568383

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22047063_22047064dup , CM000685.2:g.22047063_22047064dup	GRCh38
NC_000023.10:g.22065181_22065182dup , CM000685.1:g.22065181_22065182dup	GRCh37
NC_000023.9:g.21975102_21975103dup	NCBI36
NG_007563.2:g.19261_19262dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.627_628dup
ENST00000683214.1:n.544+13940_544+13941dup
ENST00000684143.1:c.201_202dup	ENSP00000508264.1:p.Ser68LysfsTer4
ENST00000379374.5:c.201_202dup MANE Select	ENSP00000368682.4:p.Ser68LysfsTer4
ENST00000379374.4:c.201_202dup	ENSP00000368682.4:p.Ser68LysfsTer4
NM_000444.5:c.201_202dup	NP_000435.3:p.Ser68LysfsTer4
NM_001282754.1:c.201_202dup	NP_001269683.1:p.Ser68LysfsTer4
XM_011545535.1:c.201_202dup	XP_011543837.1:p.Ser68LysfsTer4
XM_024452390.1:c.-91_-90dup	XP_024308158.1:n.-91_-90dup
XR_001755695.1:n.880_881dup
NM_000444.6:c.201_202dup MANE Select	NP_000435.3:p.Ser68LysfsTer4
NM_001282754.2:c.201_202dup	NP_001269683.1:p.Ser68LysfsTer4