Canonical Allele Identifier: CA2573158752

Gene: PHEX

Linked Data

• ClinVar Variation Id: 1453146
• ClinVar RCV Id: RCV002037843
• dbSNP Id: rs2147040206

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22094057del , CM000685.2:g.22094057del	GRCh38
NC_000023.10:g.22112175del , CM000685.1:g.22112175del	GRCh37
NC_000023.9:g.22022096del	NCBI36
NG_007563.2:g.66255del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1233del
ENST00000684143.1:c.804del	ENSP00000508264.1:p.His268GlnfsTer3
ENST00000684745.1:n.481del
ENST00000379374.5:c.807del MANE Select	ENSP00000368682.4:p.His269GlnfsTer3
ENST00000379374.4:c.807del	ENSP00000368682.4:p.His269GlnfsTer3
ENST00000475778.1:n.80del
NM_000444.5:c.807del	NP_000435.3:p.His269GlnfsTer3
NM_001282754.1:c.807del	NP_001269683.1:p.His269GlnfsTer3
XM_011545533.1:c.51del	XP_011543835.1:p.His17GlnfsTer3
XM_011545534.1:c.51del	XP_011543836.1:p.His17GlnfsTer3
XM_011545535.1:c.807del	XP_011543837.1:p.His269GlnfsTer3
XM_017029579.1:c.51del	XP_016885068.1:p.His17GlnfsTer3
XM_024452390.1:c.516del	XP_024308158.1:p.His172GlnfsTer3
XR_001755695.1:n.1486del
NM_000444.6:c.807del MANE Select	NP_000435.3:p.His269GlnfsTer3
NM_001282754.2:c.807del	NP_001269683.1:p.His269GlnfsTer3