Canonical Allele Identifier: CA2695231782
Gene: PHEX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22133557delinsAATAA , CM000685.2:g.22133557delinsAATAA GRCh38
NC_000023.10:g.22151674delinsAATAA , CM000685.1:g.22151674delinsAATAA GRCh37
NC_000023.9:g.22061595delinsAATAA NCBI36
NG_007563.2:g.105754delinsAATAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000684745.1:n.1011delinsAATAA
ENST00000379374.5:c.1337delinsAATAA MANE Select ENSP00000368682.4:p.Phe446Ter
ENST00000379374.4:c.1337delinsAATAA ENSP00000368682.4:p.Phe446Ter
NM_000444.5:c.1337delinsAATAA NP_000435.3:p.Phe446Ter
NM_001282754.1:c.1337delinsAATAA NP_001269683.1:p.Phe446Ter
XM_011545533.1:c.581delinsAATAA XP_011543835.1:p.Phe194Ter
XM_011545534.1:c.581delinsAATAA XP_011543836.1:p.Phe194Ter
XM_011545535.1:c.1337delinsAATAA XP_011543837.1:p.Phe446Ter
XM_011545536.1:c.230delinsAATAA XP_011543838.1:p.Phe77Ter
XM_011545536.2:c.230delinsAATAA XP_011543838.1:p.Phe77Ter
XM_017029579.1:c.581delinsAATAA XP_016885068.1:p.Phe194Ter
XM_024452390.1:c.1046delinsAATAA XP_024308158.1:p.Phe349Ter
XR_001755695.1:n.2016delinsAATAA
NM_000444.6:c.1337delinsAATAA MANE Select NP_000435.3:p.Phe446Ter
NM_001282754.2:c.1337delinsAATAA NP_001269683.1:p.Phe446Ter