Canonical Allele Identifier: CA2773371645
Gene: PEX3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.143485300_143485301insTTGG , CM000668.2:g.143485300_143485301insTTGG GRCh38
NC_000006.11:g.143806437_143806438insTTGG , CM000668.1:g.143806437_143806438insTTGG GRCh37
NC_000006.10:g.143848130_143848131insTTGG NCBI36
NG_008459.1:g.39520_39521insTTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000367591.5:c.1038+52_1038+53insTTGG MANE Select ENSP00000356563.4:n.1038+52_1038+53insTTGG
ENST00000367591.4:c.1038+52_1038+53insTTGG ENSP00000356563.4:n.1038+52_1038+53insTTGG
ENST00000585848.1:n.177+52_177+53insTTGG
NM_003630.2:c.1038+52_1038+53insTTGG NP_003621.1:n.1038+52_1038+53insTTGG
NM_003630.3:c.1038+52_1038+53insTTGG MANE Select NP_003621.1:n.1038+52_1038+53insTTGG
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