Canonical Allele Identifier: CA115371

Gene: PEX26

Linked Data

• ClinVar Variation Id: 2154
• ClinVar RCV Id: RCV000002237 ; RCV000727235 ; RCV000662021 ; RCV000821185 ; RCV000780590
• dbSNP Id: rs61752129
• ExAC: 22:18561170 G / GC
• gnomAD v2: 22-18561170-G-GC
• gnomAD v3: 22-18078404-G-GC
• gnomAD v4: 22-18078404-G-GC
• MyVariant Identifiers: chr22:g.18561176dupC (hg19) ; chr22:g.18561171_18561172insC (hg19) ; chr22:g.18561170_18561171insC (hg19) ; chr22:g.18078410dupC (hg38) ; chr22:g.18078405_18078406insC (hg38) ; chr22:g.18078404_18078405insC (hg38)
• PubMed: PMID:12851857

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18078410dup , CM000684.2:g.18078410dup	GRCh38
NC_000022.10:g.18561176dup , CM000684.1:g.18561176dup	GRCh37
NC_000022.9:g.16941176dup	NCBI36
NG_008339.1:g.5491dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399744.8:c.34dup MANE Select	ENSP00000382648.4:p.Leu12ProfsTer?
ENST00000474897.6:c.34dup	ENSP00000434235.2:p.Leu12ProfsTer?
ENST00000329627.11:c.34dup	ENSP00000331106.5:p.Leu12ProfsTer?
ENST00000399744.7:c.34dup	ENSP00000382648.3:p.Leu12ProfsTer?
ENST00000428061.2:c.34dup	ENSP00000412441.2:p.Leu12ProfsTer?
ENST00000474897.5:c.34dup	ENSP00000434235.1:p.Leu12ProfsTer?
ENST00000610387.4:c.34dup	ENSP00000482091.1:p.Leu12ProfsTer?
NM_001127649.2:c.34dup	NP_001121121.1:p.Leu12ProfsTer?
NM_001199319.1:c.34dup	NP_001186248.1:p.Leu12ProfsTer?
NM_017929.5:c.34dup	NP_060399.1:p.Leu12ProfsTer?
NM_001127649.3:c.34dup MANE Select	NP_001121121.1:p.Leu12ProfsTer?
NM_001199319.2:c.34dup	NP_001186248.1:p.Leu12ProfsTer?
NM_017929.6:c.34dup	NP_060399.1:p.Leu12ProfsTer?