Canonical Allele Identifier: CA916082939
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 863102
ClinVar RCV Id: RCV001069988

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92517348_92518796del , CM000669.2:g.92517348_92518796del GRCh38
NC_000007.13:g.92146662_92148110del , CM000669.1:g.92146662_92148110del GRCh37
NC_000007.12:g.91984598_91986046del NCBI36
NG_008341.1:g.14739_16187del
NG_008341.2:g.14739_16187del

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.357+202_1170del
ENST00000248633.8:c.357+202_1170del
ENST00000428214.5:c.357+202_1170del
ENST00000438045.5:c.273+3309_274-3378del ENSP00000410438.1:n.273+3309_274-3378del
ENST00000484913.5:n.396+167_1209del
NM_000466.2:c.357+202_1170del
NM_001282677.1:c.357+202_1170del
NM_001282678.1:c.-268+167_546del
XR_242246.3:n.453+202_1266del
XR_242246.5:n.404+202_1217del
NM_000466.3:c.357+202_1170del
NM_001282677.2:c.357+202_1170del
NM_001282678.2:c.-268+167_546del