Canonical Allele Identifier: CA1139532498

Gene: PHEX

Linked Data

• ClinVar Variation Id: 948580
• ClinVar RCV Id: RCV001219871 ; RCV002225128
• dbSNP Id: rs1932102521

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22133533del , CM000685.2:g.22133533del	GRCh38
NC_000023.10:g.22151650del , CM000685.1:g.22151650del	GRCh37
NC_000023.9:g.22061571del	NCBI36
NG_007563.2:g.105730del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684745.1:n.987del
ENST00000379374.5:c.1313del MANE Select	ENSP00000368682.4:p.Leu438TrpfsTer13
ENST00000379374.4:c.1313del	ENSP00000368682.4:p.Leu438TrpfsTer13
NM_000444.5:c.1313del	NP_000435.3:p.Leu438TrpfsTer13
NM_001282754.1:c.1313del	NP_001269683.1:p.Leu438TrpfsTer13
XM_011545533.1:c.557del	XP_011543835.1:p.Leu186TrpfsTer13
XM_011545534.1:c.557del	XP_011543836.1:p.Leu186TrpfsTer13
XM_011545535.1:c.1313del	XP_011543837.1:p.Leu438TrpfsTer13
XM_011545536.1:c.206del	XP_011543838.1:p.Leu69TrpfsTer13
XM_011545536.2:c.206del	XP_011543838.1:p.Leu69TrpfsTer13
XM_017029579.1:c.557del	XP_016885068.1:p.Leu186TrpfsTer13
XM_024452390.1:c.1022del	XP_024308158.1:p.Leu341TrpfsTer13
XR_001755695.1:n.1992del
NM_000444.6:c.1313del MANE Select	NP_000435.3:p.Leu438TrpfsTer13
NM_001282754.2:c.1313del	NP_001269683.1:p.Leu438TrpfsTer13