Canonical Allele Identifier: CA638502284

Gene: PEX26

Linked Data

• ClinVar Variation Id: 1331348
• ClinVar RCV Id: RCV001806692
• dbSNP Id: rs61752129
• gnomAD v2: 22-18561170-GC-G
• gnomAD v3: 22-18078404-GC-G
• gnomAD v4: 22-18078404-GC-G
• MyVariant Identifiers: chr22:g.18561171del (hg19) ; chr22:g.18078405del (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399744.8:c.34del MANE Select	ENSP00000382648.4:p.Leu12SerfsTer?
ENST00000474897.6:c.34del	ENSP00000434235.2:p.Leu12SerfsTer?
ENST00000329627.11:c.34del	ENSP00000331106.5:p.Leu12SerfsTer?
ENST00000399744.7:c.34del	ENSP00000382648.3:p.Leu12SerfsTer?
ENST00000428061.2:c.34del	ENSP00000412441.2:p.Leu12SerfsTer?
ENST00000474897.5:c.34del	ENSP00000434235.1:p.Leu12SerfsTer?
ENST00000610387.4:c.34del	ENSP00000482091.1:p.Leu12SerfsTer?
NM_001127649.2:c.34del	NP_001121121.1:p.Leu12SerfsTer?
NM_001199319.1:c.34del	NP_001186248.1:p.Leu12SerfsTer?
NM_017929.5:c.34del	NP_060399.1:p.Leu12SerfsTer?
NM_001127649.3:c.34del MANE Select	NP_001121121.1:p.Leu12SerfsTer?
NM_001199319.2:c.34del	NP_001186248.1:p.Leu12SerfsTer?
NM_017929.6:c.34del	NP_060399.1:p.Leu12SerfsTer?