Canonical Allele Identifier: CA2419211499
Gene: PHEX HGNC NCBI
PTCHD1-AS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22226598_22226601delinsTGAG , CM000685.2:g.22226598_22226601delinsTGAG GRCh38
NC_000023.10:g.22244715_22244718delinsTGAG , CM000685.1:g.22244715_22244718delinsTGAG GRCh37
NC_000023.9:g.22154636_22154639delinsTGAG NCBI36
NG_007563.2:g.198795_198798delinsTGAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000683162.1:c.519+90_519+93delinsTGAG (PHEX) ENSP00000508059.1:n.519+90_519+93delinsTGAG
ENST00000683289.1:c.519+90_519+93delinsTGAG (PHEX) ENSP00000508195.1:n.519+90_519+93delinsTGAG
ENST00000683917.1:n.749+90_749+93delinsTGAG (PHEX)
ENST00000684356.1:c.519+90_519+93delinsTGAG (PHEX) ENSP00000507619.1:n.519+90_519+93delinsTGAG
ENST00000684745.1:n.1639+90_1639+93delinsTGAG (PHEX)
ENST00000379374.5:c.1965+90_1965+93delinsTGAG (PHEX) MANE Select ENSP00000368682.4:n.1965+90_1965+93delinsTGAG
ENST00000379374.4:c.1965+90_1965+93delinsTGAG (PHEX) ENSP00000368682.4:n.1965+90_1965+93delinsTGAG
NM_000444.5:c.1965+90_1965+93delinsTGAG (PHEX) NP_000435.3:n.1965+90_1965+93delinsTGAG
NM_001282754.1:c.1965+90_1965+93delinsTGAG (PHEX) NP_001269683.1:n.1965+90_1965+93delinsTGAG
XM_011545533.1:c.1209+90_1209+93delinsTGAG (PHEX) XP_011543835.1:n.1209+90_1209+93delinsTGAG
XM_011545534.1:c.1209+90_1209+93delinsTGAG (PHEX) XP_011543836.1:n.1209+90_1209+93delinsTGAG
XM_011545536.1:c.858+90_858+93delinsTGAG (PHEX) XP_011543838.1:n.858+90_858+93delinsTGAG
XR_950534.1:n.326-578_326-575delinsCTCA
NR_073010.2:n.1048+869_1048+872delinsCTCA (PTCHD1-AS)
XM_011545536.2:c.858+90_858+93delinsTGAG (PHEX) XP_011543838.1:n.858+90_858+93delinsTGAG
XM_017029579.1:c.1209+90_1209+93delinsTGAG (PHEX) XP_016885068.1:n.1209+90_1209+93delinsTGAG
XM_024452390.1:c.1674+90_1674+93delinsTGAG (PHEX) XP_024308158.1:n.1674+90_1674+93delinsTGAG
XR_001755695.1:n.2805+90_2805+93delinsTGAG (PHEX)
NM_000444.6:c.1965+90_1965+93delinsTGAG (PHEX) MANE Select NP_000435.3:n.1965+90_1965+93delinsTGAG
NM_001282754.2:c.1965+90_1965+93delinsTGAG (PHEX) NP_001269683.1:n.1965+90_1965+93delinsTGAG