Canonical Allele Identifier: CA873940905

Gene: PHEX

Linked Data

• dbSNP Id: rs1292460789
• MyVariant Identifiers: chrX:g.22064744del (hg19) ; chrX:g.22046626del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22046627del , CM000685.2:g.22046627del	GRCh38
NC_000023.10:g.22064745del , CM000685.1:g.22064745del	GRCh37
NC_000023.9:g.21974666del	NCBI36
NG_007563.2:g.18825del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.614-423del
ENST00000683214.1:n.544+13504del
ENST00000684143.1:c.188-423del	ENSP00000508264.1:n.188-423del
ENST00000379374.5:c.188-423del MANE Select	ENSP00000368682.4:n.188-423del
ENST00000379374.4:c.188-423del	ENSP00000368682.4:n.188-423del
NM_000444.5:c.188-423del	NP_000435.3:n.188-423del
NM_001282754.1:c.188-423del	NP_001269683.1:n.188-423del
XM_011545535.1:c.188-423del	XP_011543837.1:n.188-423del
XM_024452390.1:c.-104-423del	XP_024308158.1:n.-104-423del
XR_001755695.1:n.867-423del
NM_000444.6:c.188-423del MANE Select	NP_000435.3:n.188-423del
NM_001282754.2:c.188-423del	NP_001269683.1:n.188-423del