Canonical Allele Identifier: CA2419181312
Gene: PHEX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22133543_22133544delinsCG , CM000685.2:g.22133543_22133544delinsCG GRCh38
NC_000023.10:g.22151660_22151661delinsCG , CM000685.1:g.22151660_22151661delinsCG GRCh37
NC_000023.9:g.22061581_22061582delinsCG NCBI36
NG_007563.2:g.105740_105741delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000684745.1:n.997_998delinsCG
ENST00000379374.5:c.1323_1324delinsCG MANE Select ENSP00000368682.4:p.Gly441=
ENST00000379374.4:c.1323_1324delinsCG ENSP00000368682.4:p.Gly441=
NM_000444.5:c.1323_1324delinsCG NP_000435.3:p.Gly441=
NM_001282754.1:c.1323_1324delinsCG NP_001269683.1:p.Gly441=
XM_011545533.1:c.567_568delinsCG XP_011543835.1:p.Gly189=
XM_011545534.1:c.567_568delinsCG XP_011543836.1:p.Gly189=
XM_011545535.1:c.1323_1324delinsCG XP_011543837.1:p.Gly441=
XM_011545536.1:c.216_217delinsCG XP_011543838.1:p.Gly72=
XM_011545536.2:c.216_217delinsCG XP_011543838.1:p.Gly72=
XM_017029579.1:c.567_568delinsCG XP_016885068.1:p.Gly189=
XM_024452390.1:c.1032_1033delinsCG XP_024308158.1:p.Gly344=
XR_001755695.1:n.2002_2003delinsCG
NM_000444.6:c.1323_1324delinsCG MANE Select NP_000435.3:p.Gly441=
NM_001282754.2:c.1323_1324delinsCG NP_001269683.1:p.Gly441=