Canonical Allele Identifier: CA2573158516

Gene: PHEX

Linked Data

• ClinVar Variation Id: 1392012
• ClinVar RCV Id: RCV001911139
• dbSNP Id: rs2146987897

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22047178del , CM000685.2:g.22047178del	GRCh38
NC_000023.10:g.22065296del , CM000685.1:g.22065296del	GRCh37
NC_000023.9:g.21975217del	NCBI36
NG_007563.2:g.19376del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.742del
ENST00000683214.1:n.544+14055del
ENST00000684143.1:c.316del	ENSP00000508264.1:p.Trp106GlyfsTer2
ENST00000379374.5:c.316del MANE Select	ENSP00000368682.4:p.Trp106GlyfsTer2
ENST00000379374.4:c.316del	ENSP00000368682.4:p.Trp106GlyfsTer2
NM_000444.5:c.316del	NP_000435.3:p.Trp106GlyfsTer2
NM_001282754.1:c.316del	NP_001269683.1:p.Trp106GlyfsTer2
XM_011545535.1:c.316del	XP_011543837.1:p.Trp106GlyfsTer2
XM_017029579.1:c.-127del	XP_016885068.1:n.-127del
XM_024452390.1:c.25del	XP_024308158.1:p.Trp9GlyfsTer2
XR_001755695.1:n.995del
NM_000444.6:c.316del MANE Select	NP_000435.3:p.Trp106GlyfsTer2
NM_001282754.2:c.316del	NP_001269683.1:p.Trp106GlyfsTer2