Canonical Allele Identifier: CA2513240593
Gene: PEX26 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.18078381_18078383del , CM000684.2:g.18078381_18078383del GRCh38
NC_000022.10:g.18561147_18561149del , CM000684.1:g.18561147_18561149del GRCh37
NC_000022.9:g.16941147_16941149del NCBI36
NG_008339.1:g.5462_5464del

Transcript Alleles

HGVS Amino-acid Change
ENST00000399744.8:c.5_7del MANE Select ENSP00000382648.4:p.Lys2del
ENST00000474897.6:c.5_7del ENSP00000434235.2:p.Lys2del
ENST00000329627.11:c.5_7del ENSP00000331106.5:p.Lys2del
ENST00000399744.7:c.5_7del ENSP00000382648.3:p.Lys2del
ENST00000428061.2:c.5_7del ENSP00000412441.2:p.Lys2del
ENST00000474897.5:c.5_7del ENSP00000434235.1:p.Lys2del
ENST00000610387.4:c.5_7del ENSP00000482091.1:p.Lys2del
NM_001127649.2:c.5_7del NP_001121121.1:p.Lys2del
NM_001199319.1:c.5_7del NP_001186248.1:p.Lys2del
NM_017929.5:c.5_7del NP_060399.1:p.Lys2del
NM_001127649.3:c.5_7del MANE Select NP_001121121.1:p.Lys2del
NM_001199319.2:c.5_7del NP_001186248.1:p.Lys2del
NM_017929.6:c.5_7del NP_060399.1:p.Lys2del