Canonical Allele Identifier: CA1139666952
Gene: PEX26 HGNC NCBI

Linked Data

ClinVar Variation Id: 970602
ClinVar RCV Id: RCV001246197
dbSNP Id: rs1926403854

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.18078554_18078555delinsA , CM000684.2:g.18078554_18078555delinsA GRCh38
NC_000022.10:g.18561320_18561321delinsA , CM000684.1:g.18561320_18561321delinsA GRCh37
NC_000022.9:g.16941320_16941321delinsA NCBI36
NG_008339.1:g.5635_5636delinsA

Transcript Alleles

HGVS Amino-acid Change
ENST00000399744.8:c.178_179delinsA MANE Select ENSP00000382648.4:p.Ala61ProfsTer21
ENST00000474897.6:c.178_179delinsA ENSP00000434235.2:p.Ala61ProfsTer21
ENST00000329627.11:c.178_179delinsA ENSP00000331106.5:p.Ala61ProfsTer21
ENST00000399744.7:c.178_179delinsA ENSP00000382648.3:p.Ala61ProfsTer21
ENST00000428061.2:c.178_179delinsA ENSP00000412441.2:p.Ala61ProfsTer21
ENST00000474897.5:c.178_179delinsA ENSP00000434235.1:p.Ala61ProfsTer21
ENST00000610387.4:c.178_179delinsA ENSP00000482091.1:p.Ala61ProfsTer21
NM_001127649.2:c.178_179delinsA NP_001121121.1:p.Ala61ProfsTer21
NM_001199319.1:c.178_179delinsA NP_001186248.1:p.Ala61ProfsTer21
NM_017929.5:c.178_179delinsA NP_060399.1:p.Ala61ProfsTer21
NM_001127649.3:c.178_179delinsA MANE Select NP_001121121.1:p.Ala61ProfsTer21
NM_001199319.2:c.178_179delinsA NP_001186248.1:p.Ala61ProfsTer21
NM_017929.6:c.178_179delinsA NP_060399.1:p.Ala61ProfsTer21