Canonical Allele Identifier: CA16621322
Gene: PHEX HGNC NCBI

Linked Data

ClinVar Variation Id: 419401
ClinVar RCV Id: RCV000486397 RCV001843306
dbSNP Id: rs1064793847
MyVariant Identifiers: chrX:g.22132604del (hg19) chrX:g.22114486del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22114486del , CM000685.2:g.22114486del GRCh38
NC_000023.10:g.22132604del , CM000685.1:g.22132604del GRCh37
NC_000023.9:g.22042525del NCBI36
NG_007563.2:g.86684del

Transcript Alleles

HGVS Amino-acid change
ENST00000684143.1:c.1199del ENSP00000508264.1:p.Pro400LeufsTer7
ENST00000684745.1:n.876del
ENST00000379374.5:c.1202del MANE Select ENSP00000368682.4:p.Pro401LeufsTer7
ENST00000379374.4:c.1202del ENSP00000368682.4:p.Pro401LeufsTer7
NM_000444.5:c.1202del NP_000435.3:p.Pro401LeufsTer7
NM_001282754.1:c.1202del NP_001269683.1:p.Pro401LeufsTer7
XM_011545533.1:c.446del XP_011543835.1:p.Pro149LeufsTer7
XM_011545534.1:c.446del XP_011543836.1:p.Pro149LeufsTer7
XM_011545535.1:c.1202del XP_011543837.1:p.Pro401LeufsTer7
XM_011545536.1:c.95del XP_011543838.1:p.Pro32LeufsTer7
XM_011545536.2:c.95del XP_011543838.1:p.Pro32LeufsTer7
XM_017029579.1:c.446del XP_016885068.1:p.Pro149LeufsTer7
XM_024452390.1:c.911del XP_024308158.1:p.Pro304LeufsTer7
XR_001755695.1:n.1881del
NM_000444.6:c.1202del MANE Select NP_000435.3:p.Pro401LeufsTer7
NM_001282754.2:c.1202del NP_001269683.1:p.Pro401LeufsTer7
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