Canonical Allele Identifier: CA2820020466
Gene: PHEX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22133637_22133643del , CM000685.2:g.22133637_22133643del GRCh38
NC_000023.10:g.22151754_22151760del , CM000685.1:g.22151754_22151760del GRCh37
NC_000023.9:g.22061675_22061681del NCBI36
NG_007563.2:g.105834_105840del

Transcript Alleles

HGVS Amino-acid change
ENST00000684745.1:n.1078+13_1078+19del
ENST00000379374.5:c.1404+13_1404+19del MANE Select ENSP00000368682.4:n.1404+13_1404+19del
ENST00000379374.4:c.1404+13_1404+19del ENSP00000368682.4:n.1404+13_1404+19del
NM_000444.5:c.1404+13_1404+19del NP_000435.3:n.1404+13_1404+19del
NM_001282754.1:c.1404+13_1404+19del NP_001269683.1:n.1404+13_1404+19del
XM_011545533.1:c.648+13_648+19del XP_011543835.1:n.648+13_648+19del
XM_011545534.1:c.648+13_648+19del XP_011543836.1:n.648+13_648+19del
XM_011545535.1:c.1404+13_1404+19del XP_011543837.1:n.1404+13_1404+19del
XM_011545536.1:c.297+13_297+19del XP_011543838.1:n.297+13_297+19del
XM_011545536.2:c.297+13_297+19del XP_011543838.1:n.297+13_297+19del
XM_017029579.1:c.648+13_648+19del XP_016885068.1:n.648+13_648+19del
XM_024452390.1:c.1113+13_1113+19del XP_024308158.1:n.1113+13_1113+19del
XR_001755695.1:n.2083+13_2083+19del
NM_000444.6:c.1404+13_1404+19del MANE Select NP_000435.3:n.1404+13_1404+19del
NM_001282754.2:c.1404+13_1404+19del NP_001269683.1:n.1404+13_1404+19del