Canonical Allele Identifier: CA2773371642
Gene: PEX3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.143485298_143485299insT , CM000668.2:g.143485298_143485299insT GRCh38
NC_000006.11:g.143806435_143806436insT , CM000668.1:g.143806435_143806436insT GRCh37
NC_000006.10:g.143848128_143848129insT NCBI36
NG_008459.1:g.39518_39519insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000367591.5:c.1038+50_1038+51insT MANE Select ENSP00000356563.4:n.1038+50_1038+51insT
ENST00000367591.4:c.1038+50_1038+51insT ENSP00000356563.4:n.1038+50_1038+51insT
ENST00000585848.1:n.177+50_177+51insT
NM_003630.2:c.1038+50_1038+51insT NP_003621.1:n.1038+50_1038+51insT
NM_003630.3:c.1038+50_1038+51insT MANE Select NP_003621.1:n.1038+50_1038+51insT