Canonical Allele Identifier: CA2580100482
Gene: PHEX HGNC NCBI

Linked Data

ClinVar Variation Id: 2118154
ClinVar RCV Id: RCV003030335

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22096945_22096963del , CM000685.2:g.22096945_22096963del GRCh38
NC_000023.10:g.22115063_22115081del , CM000685.1:g.22115063_22115081del GRCh37
NC_000023.9:g.22024984_22025002del NCBI36
NG_007563.2:g.69143_69161del

Transcript Alleles

HGVS Amino-acid Change
ENST00000475778.2:n.1276-10_1284del
ENST00000684143.1:c.847-10_855del
ENST00000684745.1:n.524-10_532del
ENST00000379374.5:c.850-10_858del
ENST00000379374.4:c.850-10_858del
ENST00000475778.1:n.123-10_131del
NM_000444.5:c.850-10_858del
NM_001282754.1:c.850-10_858del
XM_011545533.1:c.94-10_102del
XM_011545534.1:c.94-10_102del
XM_011545535.1:c.850-10_858del
XM_017029579.1:c.94-10_102del
XM_024452390.1:c.559-10_567del
XR_001755695.1:n.1529-10_1537del
NM_000444.6:c.850-10_858del
NM_001282754.2:c.850-10_858del