Canonical Allele Identifier: CA10603555

Gene: PHEX

Linked Data

• ClinVar Variation Id: 280486
• ClinVar RCV Id: RCV000346647
• dbSNP Id: rs886041680
• MyVariant Identifiers: chrX:g.22095665_22095686del (hg19) ; chrX:g.22077547_22077568del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22077547_22077568del , CM000685.2:g.22077547_22077568del	GRCh38
NC_000023.10:g.22095665_22095686del , CM000685.1:g.22095665_22095686del	GRCh37
NC_000023.9:g.22005586_22005607del	NCBI36
NG_007563.2:g.49745_49766del

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.934_955del
ENST00000683214.1:n.616_637del
ENST00000684143.1:c.505_526del	ENSP00000508264.1:p.Leu169LysfsTer?
ENST00000684745.1:n.182_203del
ENST00000379374.5:c.508_529del MANE Select	ENSP00000368682.4:p.Leu170LysfsTer?
ENST00000379374.4:c.508_529del	ENSP00000368682.4:p.Leu170LysfsTer?
NM_000444.5:c.508_529del	NP_000435.3:p.Leu170LysfsTer?
NM_001282754.1:c.508_529del	NP_001269683.1:p.Leu170LysfsTer?
XM_011545535.1:c.508_529del	XP_011543837.1:p.Leu170LysfsTer?
XM_017029579.1:c.-93-12882_-93-12861del	XP_016885068.1:n.-93-12882_-93-12861del
XM_024452390.1:c.217_238del	XP_024308158.1:p.Leu73LysfsTer?
XR_001755695.1:n.1187_1208del
NM_000444.6:c.508_529del MANE Select	NP_000435.3:p.Leu170LysfsTer?
NM_001282754.2:c.508_529del	NP_001269683.1:p.Leu170LysfsTer?