Canonical Allele Identifier: CA2419181364

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22133687_22133711delinsCATTGACTGTGTAGTTGGTTTTTAT , CM000685.2:g.22133687_22133711delinsCATTGACTGTGTAGTTGGTTTTTAT	GRCh38
NC_000023.10:g.22151804_22151828delinsCATTGACTGTGTAGTTGGTTTTTAT , CM000685.1:g.22151804_22151828delinsCATTGACTGTGTAGTTGGTTTTTAT	GRCh37
NC_000023.9:g.22061725_22061749delinsCATTGACTGTGTAGTTGGTTTTTAT	NCBI36
NG_007563.2:g.105884_105908delinsCATTGACTGTGTAGTTGGTTTTTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684745.1:n.1078+63_1078+87delinsCATTGACTGTGTAGTTGGTTTTTAT
ENST00000379374.5:c.1404+63_1404+87delinsCATTGACTGTGTAGTTGGTTTTTAT MANE Select	ENSP00000368682.4:n.1404+63_1404+87delinsCATTGACTGTGTAGTTGGTT...
ENST00000379374.4:c.1404+63_1404+87delinsCATTGACTGTGTAGTTGGTTTTTAT	ENSP00000368682.4:n.1404+63_1404+87delinsCATTGACTGTGTAGTTGGTT...
NM_000444.5:c.1404+63_1404+87delinsCATTGACTGTGTAGTTGGTTTTTAT	NP_000435.3:n.1404+63_1404+87delinsCATTGACTGTGTAGTTGGTTTTTAT
NM_001282754.1:c.1404+63_1404+87delinsCATTGACTGTGTAGTTGGTTTTTAT	NP_001269683.1:n.1404+63_1404+87delinsCATTGACTGTGTAGTTGGTTTTT...
XM_011545533.1:c.648+63_648+87delinsCATTGACTGTGTAGTTGGTTTTTAT	XP_011543835.1:n.648+63_648+87delinsCATTGACTGTGTAGTTGGTTTTTAT...
XM_011545534.1:c.648+63_648+87delinsCATTGACTGTGTAGTTGGTTTTTAT	XP_011543836.1:n.648+63_648+87delinsCATTGACTGTGTAGTTGGTTTTTAT...
XM_011545535.1:c.1404+63_1404+87delinsCATTGACTGTGTAGTTGGTTTTTAT	XP_011543837.1:n.1404+63_1404+87delinsCATTGACTGTGTAGTTGGTTTTT...
XM_011545536.1:c.297+63_297+87delinsCATTGACTGTGTAGTTGGTTTTTAT	XP_011543838.1:n.297+63_297+87delinsCATTGACTGTGTAGTTGGTTTTTAT...
XM_011545536.2:c.297+63_297+87delinsCATTGACTGTGTAGTTGGTTTTTAT	XP_011543838.1:n.297+63_297+87delinsCATTGACTGTGTAGTTGGTTTTTAT...
XM_017029579.1:c.648+63_648+87delinsCATTGACTGTGTAGTTGGTTTTTAT	XP_016885068.1:n.648+63_648+87delinsCATTGACTGTGTAGTTGGTTTTTAT...
XM_024452390.1:c.1113+63_1113+87delinsCATTGACTGTGTAGTTGGTTTTTAT	XP_024308158.1:n.1113+63_1113+87delinsCATTGACTGTGTAGTTGGTTTTT...
XR_001755695.1:n.2083+63_2083+87delinsCATTGACTGTGTAGTTGGTTTTTAT
NM_000444.6:c.1404+63_1404+87delinsCATTGACTGTGTAGTTGGTTTTTAT MANE Select	NP_000435.3:n.1404+63_1404+87delinsCATTGACTGTGTAGTTGGTTTTTAT
NM_001282754.2:c.1404+63_1404+87delinsCATTGACTGTGTAGTTGGTTTTTAT	NP_001269683.1:n.1404+63_1404+87delinsCATTGACTGTGTAGTTGGTTTTT...