Canonical Allele Identifier: CA327522273

Gene: PHEX

Linked Data

• dbSNP Id: rs1017362124
• MyVariant Identifiers: chrX:g.22115060del (hg19) ; chrX:g.22096942del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22096942del , CM000685.2:g.22096942del	GRCh38
NC_000023.10:g.22115060del , CM000685.1:g.22115060del	GRCh37
NC_000023.9:g.22024981del	NCBI36
NG_007563.2:g.69140del

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.1276-13del
ENST00000684143.1:c.847-13del	ENSP00000508264.1:n.847-13del
ENST00000684745.1:n.524-13del
ENST00000379374.5:c.850-13del MANE Select	ENSP00000368682.4:n.850-13del
ENST00000379374.4:c.850-13del	ENSP00000368682.4:n.850-13del
ENST00000475778.1:n.123-13del
NM_000444.5:c.850-13del	NP_000435.3:n.850-13del
NM_001282754.1:c.850-13del	NP_001269683.1:n.850-13del
XM_011545533.1:c.94-13del	XP_011543835.1:n.94-13del
XM_011545534.1:c.94-13del	XP_011543836.1:n.94-13del
XM_011545535.1:c.850-13del	XP_011543837.1:n.850-13del
XM_017029579.1:c.94-13del	XP_016885068.1:n.94-13del
XM_024452390.1:c.559-13del	XP_024308158.1:n.559-13del
XR_001755695.1:n.1529-13del
NM_000444.6:c.850-13del MANE Select	NP_000435.3:n.850-13del
NM_001282754.2:c.850-13del	NP_001269683.1:n.850-13del