Canonical Allele Identifier: CA10603968

Gene: PHEX

Linked Data

• ClinVar Variation Id: 281773
• ClinVar RCV Id: RCV000316107 ; RCV000505446
• dbSNP Id: rs886042234
• MyVariant Identifiers: chrX:g.22196496_22196499del (hg19) ; chrX:g.22178379_22178382del (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22178379_22178382del , CM000685.2:g.22178379_22178382del	GRCh38
NC_000023.10:g.22196496_22196499del , CM000685.1:g.22196496_22196499del	GRCh37
NC_000023.9:g.22106417_22106420del	NCBI36
NG_007563.2:g.150576_150579del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.140+3_140+6del
ENST00000683162.1:c.140+3_140+6del
ENST00000683289.1:c.140+3_140+6del
ENST00000683917.1:n.370+3_370+6del
ENST00000684356.1:c.140+3_140+6del
ENST00000684745.1:n.1260+3_1260+6del
ENST00000379374.5:c.1586+3_1586+6del
ENST00000379374.4:c.1586+3_1586+6del
NM_000444.5:c.1586+3_1586+6del
NM_001282754.1:c.1586+3_1586+6del
XM_011545533.1:c.830+3_830+6del
XM_011545534.1:c.830+3_830+6del
XM_011545536.1:c.479+3_479+6del
XM_011545536.2:c.479+3_479+6del
XM_017029579.1:c.830+3_830+6del
XM_024452390.1:c.1295+3_1295+6del
XR_001755695.1:n.2426+3_2426+6del
NM_000444.6:c.1586+3_1586+6del
NM_001282754.2:c.1586+3_1586+6del