Canonical Allele Identifier: CA2841465259
Gene: PHEX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22047304_22047305insA , CM000685.2:g.22047304_22047305insA GRCh38
NC_000023.10:g.22065422_22065423insA , CM000685.1:g.22065422_22065423insA GRCh37
NC_000023.9:g.21975343_21975344insA NCBI36
NG_007563.2:g.19502_19503insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000475778.2:n.775+93_775+94insA
ENST00000683214.1:n.544+14181_544+14182insA
ENST00000684143.1:c.349+93_349+94insA ENSP00000508264.1:n.349+93_349+94insA
ENST00000379374.5:c.349+93_349+94insA MANE Select ENSP00000368682.4:n.349+93_349+94insA
ENST00000379374.4:c.349+93_349+94insA ENSP00000368682.4:n.349+93_349+94insA
NM_000444.5:c.349+93_349+94insA NP_000435.3:n.349+93_349+94insA
NM_001282754.1:c.349+93_349+94insA NP_001269683.1:n.349+93_349+94insA
XM_011545535.1:c.349+93_349+94insA XP_011543837.1:n.349+93_349+94insA
XM_017029579.1:c.-94+93_-94+94insA XP_016885068.1:n.-94+93_-94+94insA
XM_024452390.1:c.58+93_58+94insA XP_024308158.1:n.58+93_58+94insA
XR_001755695.1:n.1028+93_1028+94insA
NM_000444.6:c.349+93_349+94insA MANE Select NP_000435.3:n.349+93_349+94insA
NM_001282754.2:c.349+93_349+94insA NP_001269683.1:n.349+93_349+94insA