Canonical Allele Identifier: CA10588758

Gene: PHEX

Linked Data

• ClinVar Variation Id: 265501
• ClinVar RCV Id: RCV000255244
• dbSNP Id: rs886039582
• MyVariant Identifiers: chrX:g.22115073del (hg19) ; chrX:g.22096955del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22096955del , CM000685.2:g.22096955del	GRCh38
NC_000023.10:g.22115073del , CM000685.1:g.22115073del	GRCh37
NC_000023.9:g.22024994del	NCBI36
NG_007563.2:g.69153del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1276del
ENST00000684143.1:c.847del	ENSP00000508264.1:p.Ile283Ter
ENST00000684745.1:n.524del
ENST00000379374.5:c.850del MANE Select	ENSP00000368682.4:p.Ile284Ter
ENST00000379374.4:c.850del	ENSP00000368682.4:p.Ile284Ter
ENST00000475778.1:n.123del
NM_000444.5:c.850del	NP_000435.3:p.Ile284Ter
NM_001282754.1:c.850del	NP_001269683.1:p.Ile284Ter
XM_011545533.1:c.94del	XP_011543835.1:p.Ile32Ter
XM_011545534.1:c.94del	XP_011543836.1:p.Ile32Ter
XM_011545535.1:c.850del	XP_011543837.1:p.Ile284Ter
XM_017029579.1:c.94del	XP_016885068.1:p.Ile32Ter
XM_024452390.1:c.559del	XP_024308158.1:p.Ile187Ter
XR_001755695.1:n.1529del
NM_000444.6:c.850del MANE Select	NP_000435.3:p.Ile284Ter
NM_001282754.2:c.850del	NP_001269683.1:p.Ile284Ter