Canonical Allele Identifier: CA2580100479

Gene: PHEX

Linked Data

• ClinVar Variation Id: 2000512
• ClinVar RCV Id: RCV002824582

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22094016dup , CM000685.2:g.22094016dup	GRCh38
NC_000023.10:g.22112134dup , CM000685.1:g.22112134dup	GRCh37
NC_000023.9:g.22022055dup	NCBI36
NG_007563.2:g.66214dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1192dup
ENST00000684143.1:c.763dup	ENSP00000508264.1:p.Thr255AsnfsTer8
ENST00000684745.1:n.440dup
ENST00000379374.5:c.766dup MANE Select	ENSP00000368682.4:p.Thr256AsnfsTer8
ENST00000379374.4:c.766dup	ENSP00000368682.4:p.Thr256AsnfsTer8
ENST00000475778.1:n.39dup
NM_000444.5:c.766dup	NP_000435.3:p.Thr256AsnfsTer8
NM_001282754.1:c.766dup	NP_001269683.1:p.Thr256AsnfsTer8
XM_011545533.1:c.10dup	XP_011543835.1:p.Thr4AsnfsTer8
XM_011545534.1:c.10dup	XP_011543836.1:p.Thr4AsnfsTer8
XM_011545535.1:c.766dup	XP_011543837.1:p.Thr256AsnfsTer8
XM_017029579.1:c.10dup	XP_016885068.1:p.Thr4AsnfsTer8
XM_024452390.1:c.475dup	XP_024308158.1:p.Thr159AsnfsTer8
XR_001755695.1:n.1445dup
NM_000444.6:c.766dup MANE Select	NP_000435.3:p.Thr256AsnfsTer8
NM_001282754.2:c.766dup	NP_001269683.1:p.Thr256AsnfsTer8