Canonical Allele Identifier: CA2695231445
Gene: PHEX HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22047172del , CM000685.2:g.22047172del GRCh38
NC_000023.10:g.22065290del , CM000685.1:g.22065290del GRCh37
NC_000023.9:g.21975211del NCBI36
NG_007563.2:g.19370del

Transcript Alleles

HGVS Amino-acid Change
ENST00000475778.2:n.736del
ENST00000683214.1:n.544+14049del
ENST00000684143.1:c.310del ENSP00000508264.1:p.Tyr104IlefsTer4
ENST00000379374.5:c.310del MANE Select ENSP00000368682.4:p.Tyr104IlefsTer4
ENST00000379374.4:c.310del ENSP00000368682.4:p.Tyr104IlefsTer4
NM_000444.5:c.310del NP_000435.3:p.Tyr104IlefsTer4
NM_001282754.1:c.310del NP_001269683.1:p.Tyr104IlefsTer4
XM_011545535.1:c.310del XP_011543837.1:p.Tyr104IlefsTer4
XM_024452390.1:c.19del XP_024308158.1:p.Tyr7IlefsTer4
XR_001755695.1:n.989del
NM_000444.6:c.310del MANE Select NP_000435.3:p.Tyr104IlefsTer4
NM_001282754.2:c.310del NP_001269683.1:p.Tyr104IlefsTer4
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