Canonical Allele Identifier: CA16621327

Gene: PHEX

Linked Data

• ClinVar Variation Id: 420634
• ClinVar RCV Id: RCV000478726
• dbSNP Id: rs1556091873
• MyVariant Identifiers: chrX:g.22208567dupT (hg19) ; chrX:g.22190450dupT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22190450dup , CM000685.2:g.22190450dup	GRCh38
NC_000023.10:g.22208567dup , CM000685.1:g.22208567dup	GRCh37
NC_000023.9:g.22118488dup	NCBI36
NG_007563.2:g.162647dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.147dup	ENSP00000508003.1:p.Thr50TyrfsTer?
ENST00000683162.1:c.147dup	ENSP00000508059.1:p.Thr50TyrfsTer?
ENST00000683289.1:c.147dup	ENSP00000508195.1:p.Thr50TyrfsTer?
ENST00000683917.1:n.377dup
ENST00000684356.1:c.147dup	ENSP00000507619.1:p.Thr50TyrfsTer?
ENST00000684745.1:n.1267dup
ENST00000379374.5:c.1593dup MANE Select	ENSP00000368682.4:p.Thr532TyrfsTer?
ENST00000379374.4:c.1593dup	ENSP00000368682.4:p.Thr532TyrfsTer?
NM_000444.5:c.1593dup	NP_000435.3:p.Thr532TyrfsTer?
NM_001282754.1:c.1593dup	NP_001269683.1:p.Thr532TyrfsTer?
XM_011545533.1:c.837dup	XP_011543835.1:p.Thr280TyrfsTer?
XM_011545534.1:c.837dup	XP_011543836.1:p.Thr280TyrfsTer?
XM_011545536.1:c.486dup	XP_011543838.1:p.Thr163TyrfsTer?
XM_011545536.2:c.486dup	XP_011543838.1:p.Thr163TyrfsTer?
XM_017029579.1:c.837dup	XP_016885068.1:p.Thr280TyrfsTer?
XM_024452390.1:c.1302dup	XP_024308158.1:p.Thr435TyrfsTer?
XR_001755695.1:n.2433dup
NM_000444.6:c.1593dup MANE Select	NP_000435.3:p.Thr532TyrfsTer?
NM_001282754.2:c.1593dup	NP_001269683.1:p.Thr532TyrfsTer?