Canonical Allele Identifier: CA2655184179

Gene: PEX26

Linked Data

• ClinVar Variation Id: 2928098
• ClinVar RCV Id: RCV003786920
• gnomAD v4: 22-18078563-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18078566_18078567del , CM000684.2:g.18078566_18078567del	GRCh38
NC_000022.10:g.18561332_18561333del , CM000684.1:g.18561332_18561333del	GRCh37
NC_000022.9:g.16941332_16941333del	NCBI36
NG_008339.1:g.5647_5648del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399744.8:c.190_191del MANE Select	ENSP00000382648.4:p.Leu65GlyfsTer?
ENST00000474897.6:c.190_191del	ENSP00000434235.2:p.Leu65GlyfsTer?
ENST00000329627.11:c.190_191del	ENSP00000331106.5:p.Leu65GlyfsTer?
ENST00000399744.7:c.190_191del	ENSP00000382648.3:p.Leu65GlyfsTer?
ENST00000428061.2:c.190_191del	ENSP00000412441.2:p.Leu65GlyfsTer?
ENST00000474897.5:c.190_191del	ENSP00000434235.1:p.Leu65GlyfsTer?
ENST00000610387.4:c.190_191del	ENSP00000482091.1:p.Leu65GlyfsTer?
NM_001127649.2:c.190_191del	NP_001121121.1:p.Leu65GlyfsTer?
NM_001199319.1:c.190_191del	NP_001186248.1:p.Leu65GlyfsTer?
NM_017929.5:c.190_191del	NP_060399.1:p.Leu65GlyfsTer?
NM_001127649.3:c.190_191del MANE Select	NP_001121121.1:p.Leu65GlyfsTer?
NM_001199319.2:c.190_191del	NP_001186248.1:p.Leu65GlyfsTer?
NM_017929.6:c.190_191del	NP_060399.1:p.Leu65GlyfsTer?