Canonical Allele Identifier: CA5959725
Gene: PEX16 HGNC NCBI

Linked Data

ClinVar Variation Id: 424163
dbSNP Id: rs754790425

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45910309_45910311del , CM000673.2:g.45910309_45910311del GRCh38
NC_000011.9:g.45931860_45931862del , CM000673.1:g.45931860_45931862del GRCh37
NC_000011.8:g.45888436_45888438del NCBI36
NG_008460.1:g.12815_12817del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378750.10:c.956_958del MANE Select ENSP00000368024.5:p.Pro319del
ENST00000241041.7:c.953-132_953-130del ENSP00000241041.3:n.953-132_953-130del
ENST00000378750.9:c.956_958del ENSP00000368024.5:p.Pro319del
ENST00000523721.2:n.186_188del
ENST00000532681.5:c.671_673del ENSP00000434654.1:p.Pro224del
NM_004813.2:c.956_958del NP_004804.1:p.Pro319del
NM_057174.2:c.953-132_953-130del NP_476515.1:n.953-132_953-130del
XM_011520474.1:c.833_835del XP_011518776.1:p.Pro278del
NM_004813.3:c.956_958del NP_004804.1:p.Pro319del
NM_004813.4:c.956_958del MANE Select NP_004804.2:p.Pro319del
NM_057174.3:c.953-132_953-130del NP_476515.2:n.953-132_953-130del