Canonical Allele Identifier: CA915950854

Gene: PHEX

Linked Data

• ClinVar Variation Id: 803756
• ClinVar RCV Id: RCV000990525
• dbSNP Id: rs1602324484

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22133544del , CM000685.2:g.22133544del	GRCh38
NC_000023.10:g.22151661del , CM000685.1:g.22151661del	GRCh37
NC_000023.9:g.22061582del	NCBI36
NG_007563.2:g.105741del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684745.1:n.998del
ENST00000379374.5:c.1324del MANE Select	ENSP00000368682.4:p.Val442PhefsTer9
ENST00000379374.4:c.1324del	ENSP00000368682.4:p.Val442PhefsTer9
NM_000444.5:c.1324del	NP_000435.3:p.Val442PhefsTer9
NM_001282754.1:c.1324del	NP_001269683.1:p.Val442PhefsTer9
XM_011545533.1:c.568del	XP_011543835.1:p.Val190PhefsTer9
XM_011545534.1:c.568del	XP_011543836.1:p.Val190PhefsTer9
XM_011545535.1:c.1324del	XP_011543837.1:p.Val442PhefsTer9
XM_011545536.1:c.217del	XP_011543838.1:p.Val73PhefsTer9
XM_011545536.2:c.217del	XP_011543838.1:p.Val73PhefsTer9
XM_017029579.1:c.568del	XP_016885068.1:p.Val190PhefsTer9
XM_024452390.1:c.1033del	XP_024308158.1:p.Val345PhefsTer9
XR_001755695.1:n.2003del
NM_000444.6:c.1324del MANE Select	NP_000435.3:p.Val442PhefsTer9
NM_001282754.2:c.1324del	NP_001269683.1:p.Val442PhefsTer9