Canonical Allele Identifier: CA2419167568
Gene: PHEX HGNC NCBI

Linked Data

dbSNP Id: rs1930012074

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22093877dup , CM000685.2:g.22093877dup GRCh38
NC_000023.10:g.22111995dup , CM000685.1:g.22111995dup GRCh37
NC_000023.9:g.22021916dup NCBI36
NG_007563.2:g.66075dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000475778.2:n.1159-106dup
ENST00000684143.1:c.730-106dup ENSP00000508264.1:n.730-106dup
ENST00000684745.1:n.407-106dup
ENST00000379374.5:c.733-106dup MANE Select ENSP00000368682.4:n.733-106dup
ENST00000379374.4:c.733-106dup ENSP00000368682.4:n.733-106dup
ENST00000475778.1:n.6-106dup
NM_000444.5:c.733-106dup NP_000435.3:n.733-106dup
NM_001282754.1:c.733-106dup NP_001269683.1:n.733-106dup
XM_011545533.1:c.-24-106dup XP_011543835.1:n.-24-106dup
XM_011545534.1:c.-24-106dup XP_011543836.1:n.-24-106dup
XM_011545535.1:c.733-106dup XP_011543837.1:n.733-106dup
XM_017029579.1:c.-24-106dup XP_016885068.1:n.-24-106dup
XM_024452390.1:c.442-106dup XP_024308158.1:n.442-106dup
XR_001755695.1:n.1412-106dup
NM_000444.6:c.733-106dup MANE Select NP_000435.3:n.733-106dup
NM_001282754.2:c.733-106dup NP_001269683.1:n.733-106dup