Canonical Allele Identifier: CA16621307
Gene: PHEX HGNC NCBI

Linked Data

ClinVar Variation Id: 422708
dbSNP Id: rs1064795949

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22047194_22047196del , CM000685.2:g.22047194_22047196del GRCh38
NC_000023.10:g.22065312_22065314del , CM000685.1:g.22065312_22065314del GRCh37
NC_000023.9:g.21975233_21975235del NCBI36
NG_007563.2:g.19392_19394del

Transcript Alleles

HGVS Amino-acid change
ENST00000475778.2:n.758_760del
ENST00000683214.1:n.544+14071_544+14073del
ENST00000684143.1:c.332_334del ENSP00000508264.1:p.Val111del
ENST00000379374.5:c.332_334del MANE Select ENSP00000368682.4:p.Val111del
ENST00000379374.4:c.332_334del ENSP00000368682.4:p.Val111del
NM_000444.5:c.332_334del NP_000435.3:p.Val111del
NM_001282754.1:c.332_334del NP_001269683.1:p.Val111del
XM_011545535.1:c.332_334del XP_011543837.1:p.Val111del
XM_017029579.1:c.-111_-109del XP_016885068.1:n.-111_-109del
XM_024452390.1:c.41_43del XP_024308158.1:p.Val14del
XR_001755695.1:n.1011_1013del
NM_000444.6:c.332_334del MANE Select NP_000435.3:p.Val111del
NM_001282754.2:c.332_334del NP_001269683.1:p.Val111del