Canonical Allele Identifier: CA10588756

Gene: PHEX

Linked Data

• ClinVar Variation Id: 265498
• ClinVar RCV Id: RCV000256035
• dbSNP Id: rs886039580
• MyVariant Identifiers: chrX:g.22065201_22065202del (hg19) ; chrX:g.22047083_22047084del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22047083_22047084del , CM000685.2:g.22047083_22047084del	GRCh38
NC_000023.10:g.22065201_22065202del , CM000685.1:g.22065201_22065202del	GRCh37
NC_000023.9:g.21975122_21975123del	NCBI36
NG_007563.2:g.19281_19282del

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.647_648del
ENST00000683214.1:n.544+13960_544+13961del
ENST00000684143.1:c.221_222del	ENSP00000508264.1:p.Val74GlyfsTer4
ENST00000379374.5:c.221_222del MANE Select	ENSP00000368682.4:p.Val74GlyfsTer4
ENST00000379374.4:c.221_222del	ENSP00000368682.4:p.Val74GlyfsTer4
NM_000444.5:c.221_222del	NP_000435.3:p.Val74GlyfsTer4
NM_001282754.1:c.221_222del	NP_001269683.1:p.Val74GlyfsTer4
XM_011545535.1:c.221_222del	XP_011543837.1:p.Val74GlyfsTer4
XM_024452390.1:c.-71_-70del	XP_024308158.1:n.-71_-70del
XR_001755695.1:n.900_901del
NM_000444.6:c.221_222del MANE Select	NP_000435.3:p.Val74GlyfsTer4
NM_001282754.2:c.221_222del	NP_001269683.1:p.Val74GlyfsTer4