Canonical Allele Identifier: CA915950811

Gene: PHEX

Linked Data

• ClinVar Variation Id: 803759
• ClinVar RCV Id: RCV000990528
• dbSNP Id: rs1602363343

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22178286_22178287insTCA , CM000685.2:g.22178286_22178287insTCA	GRCh38
NC_000023.10:g.22196403_22196404insTCA , CM000685.1:g.22196403_22196404insTCA	GRCh37
NC_000023.9:g.22106324_22106325insTCA	NCBI36
NG_007563.2:g.150483_150484insTCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000682888.1:c.50_51insTCA	ENSP00000508003.1:p.Glu17delinsAspGln
ENST00000683162.1:c.50_51insTCA	ENSP00000508059.1:p.Glu17delinsAspGln
ENST00000683289.1:c.50_51insTCA	ENSP00000508195.1:p.Glu17delinsAspGln
ENST00000683917.1:n.280_281insTCA
ENST00000684356.1:c.50_51insTCA	ENSP00000507619.1:p.Glu17delinsAspGln
ENST00000684745.1:n.1170_1171insTCA
ENST00000379374.5:c.1496_1497insTCA MANE Select	ENSP00000368682.4:p.Glu499delinsAspGln
ENST00000379374.4:c.1496_1497insTCA	ENSP00000368682.4:p.Glu499delinsAspGln
NM_000444.5:c.1496_1497insTCA	NP_000435.3:p.Glu499delinsAspGln
NM_001282754.1:c.1496_1497insTCA	NP_001269683.1:p.Glu499delinsAspGln
XM_011545533.1:c.740_741insTCA	XP_011543835.1:p.Glu247delinsAspGln
XM_011545534.1:c.740_741insTCA	XP_011543836.1:p.Glu247delinsAspGln
XM_011545536.1:c.389_390insTCA	XP_011543838.1:p.Glu130delinsAspGln
XM_011545536.2:c.389_390insTCA	XP_011543838.1:p.Glu130delinsAspGln
XM_017029579.1:c.740_741insTCA	XP_016885068.1:p.Glu247delinsAspGln
XM_024452390.1:c.1205_1206insTCA	XP_024308158.1:p.Glu402delinsAspGln
XR_001755695.1:n.2336_2337insTCA
NM_000444.6:c.1496_1497insTCA MANE Select	NP_000435.3:p.Glu499delinsAspGln
NM_001282754.2:c.1496_1497insTCA	NP_001269683.1:p.Glu499delinsAspGln