Canonical Allele Identifier: CA321284536

Gene: PEX26

Linked Data

• ClinVar Variation Id: 2677685
• ClinVar RCV Id: RCV003476819
• dbSNP Id: rs267608189

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18078568_18078592del , CM000684.2:g.18078568_18078592del	GRCh38
NC_000022.10:g.18561334_18561358del , CM000684.1:g.18561334_18561358del	GRCh37
NC_000022.9:g.16941334_16941358del	NCBI36
NG_008339.1:g.5649_5673del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399744.8:c.192_216del MANE Select	ENSP00000382648.4:p.Ser64ArgfsTer10
ENST00000474897.6:c.192_216del	ENSP00000434235.2:p.Ser64ArgfsTer10
ENST00000329627.11:c.192_216del	ENSP00000331106.5:p.Ser64ArgfsTer10
ENST00000399744.7:c.192_216del	ENSP00000382648.3:p.Ser64ArgfsTer10
ENST00000428061.2:c.192_216del	ENSP00000412441.2:p.Ser64ArgfsTer10
ENST00000474897.5:c.192_216del	ENSP00000434235.1:p.Ser64ArgfsTer10
ENST00000610387.4:c.192_216del	ENSP00000482091.1:p.Ser64ArgfsTer10
NM_001127649.2:c.192_216del	NP_001121121.1:p.Ser64ArgfsTer10
NM_001199319.1:c.192_216del	NP_001186248.1:p.Ser64ArgfsTer10
NM_017929.5:c.192_216del	NP_060399.1:p.Ser64ArgfsTer10
NM_001127649.3:c.192_216del MANE Select	NP_001121121.1:p.Ser64ArgfsTer10
NM_001199319.2:c.192_216del	NP_001186248.1:p.Ser64ArgfsTer10
NM_017929.6:c.192_216del	NP_060399.1:p.Ser64ArgfsTer10