Canonical Allele Identifier: CA16621315
Gene: PHEX HGNC NCBI

Linked Data

ClinVar Variation Id: 423381
ClinVar RCV Id: RCV000480929
dbSNP Id: rs1064796391
MyVariant Identifiers: chrX:g.22112129_22112131del (hg19) chrX:g.22094011_22094013del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22094011_22094013del , CM000685.2:g.22094011_22094013del GRCh38
NC_000023.10:g.22112129_22112131del , CM000685.1:g.22112129_22112131del GRCh37
NC_000023.9:g.22022050_22022052del NCBI36
NG_007563.2:g.66209_66211del

Transcript Alleles

HGVS Amino-acid change
ENST00000475778.2:n.1187_1189del
ENST00000684143.1:c.758_760del ENSP00000508264.1:p.Val253del
ENST00000684745.1:n.435_437del
ENST00000379374.5:c.761_763del MANE Select ENSP00000368682.4:p.Val254del
ENST00000379374.4:c.761_763del ENSP00000368682.4:p.Val254del
ENST00000475778.1:n.34_36del
NM_000444.5:c.761_763del NP_000435.3:p.Val254del
NM_001282754.1:c.761_763del NP_001269683.1:p.Val254del
XM_011545533.1:c.5_7del XP_011543835.1:p.Val2del
XM_011545534.1:c.5_7del XP_011543836.1:p.Val2del
XM_011545535.1:c.761_763del XP_011543837.1:p.Val254del
XM_017029579.1:c.5_7del XP_016885068.1:p.Val2del
XM_024452390.1:c.470_472del XP_024308158.1:p.Val157del
XR_001755695.1:n.1440_1442del
NM_000444.6:c.761_763del MANE Select NP_000435.3:p.Val254del
NM_001282754.2:c.761_763del NP_001269683.1:p.Val254del
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