Canonical Allele Identifier: CA16043307
Gene: PHEX HGNC NCBI

Linked Data

ClinVar Variation Id: 372455
ClinVar RCV Id: RCV000413674
dbSNP Id: rs1057517791
MyVariant Identifiers: chrX:g.22115106del (hg19) chrX:g.22096988del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22096988del , CM000685.2:g.22096988del GRCh38
NC_000023.10:g.22115106del , CM000685.1:g.22115106del GRCh37
NC_000023.9:g.22025027del NCBI36
NG_007563.2:g.69186del

Transcript Alleles

HGVS Amino-acid change
ENST00000475778.2:n.1309del
ENST00000684143.1:c.880del ENSP00000508264.1:p.Ala294ProfsTer6
ENST00000684745.1:n.557del
ENST00000379374.5:c.883del MANE Select ENSP00000368682.4:p.Ala295ProfsTer6
ENST00000379374.4:c.883del ENSP00000368682.4:p.Ala295ProfsTer6
ENST00000475778.1:n.156del
NM_000444.5:c.883del NP_000435.3:p.Ala295ProfsTer6
NM_001282754.1:c.883del NP_001269683.1:p.Ala295ProfsTer6
XM_011545533.1:c.127del XP_011543835.1:p.Ala43ProfsTer6
XM_011545534.1:c.127del XP_011543836.1:p.Ala43ProfsTer6
XM_011545535.1:c.883del XP_011543837.1:p.Ala295ProfsTer6
XM_017029579.1:c.127del XP_016885068.1:p.Ala43ProfsTer6
XM_024452390.1:c.592del XP_024308158.1:p.Ala198ProfsTer6
XR_001755695.1:n.1562del
NM_000444.6:c.883del MANE Select NP_000435.3:p.Ala295ProfsTer6
NM_001282754.2:c.883del NP_001269683.1:p.Ala295ProfsTer6
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