Canonical Allele Identifier: CA10603435

Gene: PHEX

Linked Data

• ClinVar Variation Id: 280345
• ClinVar RCV Id: RCV000275480
• dbSNP Id: rs886041569
• MyVariant Identifiers: chrX:g.22112147dupT (hg19) ; chrX:g.22094029dupT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22094029dup , CM000685.2:g.22094029dup	GRCh38
NC_000023.10:g.22112147dup , CM000685.1:g.22112147dup	GRCh37
NC_000023.9:g.22022068dup	NCBI36
NG_007563.2:g.66227dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1205dup
ENST00000684143.1:c.776dup	ENSP00000508264.1:p.Leu259PhefsTer4
ENST00000684745.1:n.453dup
ENST00000379374.5:c.779dup MANE Select	ENSP00000368682.4:p.Leu260PhefsTer4
ENST00000379374.4:c.779dup	ENSP00000368682.4:p.Leu260PhefsTer4
ENST00000475778.1:n.52dup
NM_000444.5:c.779dup	NP_000435.3:p.Leu260PhefsTer4
NM_001282754.1:c.779dup	NP_001269683.1:p.Leu260PhefsTer4
XM_011545533.1:c.23dup	XP_011543835.1:p.Leu8PhefsTer4
XM_011545534.1:c.23dup	XP_011543836.1:p.Leu8PhefsTer4
XM_011545535.1:c.779dup	XP_011543837.1:p.Leu260PhefsTer4
XM_017029579.1:c.23dup	XP_016885068.1:p.Leu8PhefsTer4
XM_024452390.1:c.488dup	XP_024308158.1:p.Leu163PhefsTer4
XR_001755695.1:n.1458dup
NM_000444.6:c.779dup MANE Select	NP_000435.3:p.Leu260PhefsTer4
NM_001282754.2:c.779dup	NP_001269683.1:p.Leu260PhefsTer4