Canonical Allele Identifier: CA2820020470

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22133652_22133653insACCAAACACACCCAACACA , CM000685.2:g.22133652_22133653insACCAAACACACCCAACACA	GRCh38
NC_000023.10:g.22151769_22151770insACCAAACACACCCAACACA , CM000685.1:g.22151769_22151770insACCAAACACACCCAACACA	GRCh37
NC_000023.9:g.22061690_22061691insACCAAACACACCCAACACA	NCBI36
NG_007563.2:g.105849_105850insACCAAACACACCCAACACA

Transcript Alleles

HGVS	Amino-acid change
ENST00000684745.1:n.1078+28_1078+29insACCAAACACACCCAACACA
ENST00000379374.5:c.1404+28_1404+29insACCAAACACACCCAACACA MANE Select	ENSP00000368682.4:n.1404+28_1404+29insACCAAACACACCCAACACA
ENST00000379374.4:c.1404+28_1404+29insACCAAACACACCCAACACA	ENSP00000368682.4:n.1404+28_1404+29insACCAAACACACCCAACACA
NM_000444.5:c.1404+28_1404+29insACCAAACACACCCAACACA	NP_000435.3:n.1404+28_1404+29insACCAAACACACCCAACACA
NM_001282754.1:c.1404+28_1404+29insACCAAACACACCCAACACA	NP_001269683.1:n.1404+28_1404+29insACCAAACACACCCAACACA
XM_011545533.1:c.648+28_648+29insACCAAACACACCCAACACA	XP_011543835.1:n.648+28_648+29insACCAAACACACCCAACACA
XM_011545534.1:c.648+28_648+29insACCAAACACACCCAACACA	XP_011543836.1:n.648+28_648+29insACCAAACACACCCAACACA
XM_011545535.1:c.1404+28_1404+29insACCAAACACACCCAACACA	XP_011543837.1:n.1404+28_1404+29insACCAAACACACCCAACACA
XM_011545536.1:c.297+28_297+29insACCAAACACACCCAACACA	XP_011543838.1:n.297+28_297+29insACCAAACACACCCAACACA
XM_011545536.2:c.297+28_297+29insACCAAACACACCCAACACA	XP_011543838.1:n.297+28_297+29insACCAAACACACCCAACACA
XM_017029579.1:c.648+28_648+29insACCAAACACACCCAACACA	XP_016885068.1:n.648+28_648+29insACCAAACACACCCAACACA
XM_024452390.1:c.1113+28_1113+29insACCAAACACACCCAACACA	XP_024308158.1:n.1113+28_1113+29insACCAAACACACCCAACACA
XR_001755695.1:n.2083+28_2083+29insACCAAACACACCCAACACA
NM_000444.6:c.1404+28_1404+29insACCAAACACACCCAACACA MANE Select	NP_000435.3:n.1404+28_1404+29insACCAAACACACCCAACACA
NM_001282754.2:c.1404+28_1404+29insACCAAACACACCCAACACA	NP_001269683.1:n.1404+28_1404+29insACCAAACACACCCAACACA