Canonical Allele Identifier: CA2742038402
Gene: PEX26 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.[18078410dup;18085113_18085259del] , CM000684.2:g.[18078410dup;18085113_18085259del] GRCh38
NC_000022.10:g.[18561176dup;18567879_18568025del] , CM000684.1:g.[18561176dup;18567879_18568025del] GRCh37
NC_000022.9:g.[16941176dup;16947879_16948025del] NCBI36
NG_008339.1:g.[5491dup;12194_12340del]

Transcript Alleles

HGVS Amino-acid Change
ENST00000399744.8:c.[34dup;669_814+1del]
ENST00000474897.6:c.[34dup;669_814+1del]
ENST00000329627.11:c.[34dup;669_814+1del]
ENST00000399744.7:c.[34dup;669_814+1del]
ENST00000428061.2:c.[34dup;667+1381_667+1527del] ENSP00000412441.2:p.Leu12ProfsTer?
ENST00000474897.5:c.[34dup;371+5099_371+5245del] ENSP00000434235.1:p.Leu12ProfsTer?
ENST00000610387.4:c.[34dup;667+1381_667+1527del] ENSP00000482091.1:p.Leu12ProfsTer?
NM_001127649.2:c.[34dup;669_814+1del]
NM_001199319.1:c.[34dup;667+1381_667+1527del] NP_001186248.1:p.Leu12ProfsTer?
NM_017929.5:c.[34dup;669_814+1del]
NM_001127649.3:c.[34dup;669_814+1del]
NM_001199319.2:c.[34dup;667+1381_667+1527del] NP_001186248.1:p.Leu12ProfsTer?
NM_017929.6:c.[34dup;669_814+1del]