Canonical Allele Identifier: CA916083869

Gene: PHEX

Linked Data

• ClinVar Variation Id: 859909
• ClinVar RCV Id: RCV001066122
• dbSNP Id: rs1930018183

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22094000del , CM000685.2:g.22094000del	GRCh38
NC_000023.10:g.22112118del , CM000685.1:g.22112118del	GRCh37
NC_000023.9:g.22022039del	NCBI36
NG_007563.2:g.66198del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1176del
ENST00000684143.1:c.747del	ENSP00000508264.1:p.Tyr249Ter
ENST00000684745.1:n.424del
ENST00000379374.5:c.750del MANE Select	ENSP00000368682.4:p.Tyr250Ter
ENST00000379374.4:c.750del	ENSP00000368682.4:p.Tyr250Ter
ENST00000475778.1:n.23del
NM_000444.5:c.750del	NP_000435.3:p.Tyr250Ter
NM_001282754.1:c.750del	NP_001269683.1:p.Tyr250Ter
XM_011545533.1:c.-7del	XP_011543835.1:n.-7del
XM_011545534.1:c.-7del	XP_011543836.1:n.-7del
XM_011545535.1:c.750del	XP_011543837.1:p.Tyr250Ter
XM_017029579.1:c.-7del	XP_016885068.1:n.-7del
XM_024452390.1:c.459del	XP_024308158.1:p.Tyr153Ter
XR_001755695.1:n.1429del
NM_000444.6:c.750del MANE Select	NP_000435.3:p.Tyr250Ter
NM_001282754.2:c.750del	NP_001269683.1:p.Tyr250Ter