Canonical Allele Identifier: CA2773371652

Gene: PEX3

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.143485371_143485372insTGAGGACGAGCTATTACCGGATTAAACATAAGAATGGCTCCAGC , CM000668.2:g.143485371_143485372insTGAGGACGAGCTATTACCGGATTAAACATAAGAATGGCTCCAGC	GRCh38
NC_000006.11:g.143806508_143806509insTGAGGACGAGCTATTACCGGATTAAACATAAGAATGGCTCCAGC , CM000668.1:g.143806508_143806509insTGAGGACGAGCTATTACCGGATTAAACATAAGAATGGCTCCAGC	GRCh37
NC_000006.10:g.143848201_143848202insTGAGGACGAGCTATTACCGGATTAAACATAAGAATGGCTCCAGC	NCBI36
NG_008459.1:g.39591_39592insTGAGGACGAGCTATTACCGGATTAAACATAAGAATGGCTCCAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367591.5:c.1038+123_1038+124insTGAGGACGAGCTATTACCGGATTAAACATAAGAATGGCTCCAGC MANE Select	ENSP00000356563.4:n.1038+123_1038+124insTGAGGACGAGCTATTACCGGA...
ENST00000367591.4:c.1038+123_1038+124insTGAGGACGAGCTATTACCGGATTAAACATAAGAATGGCTCCAGC	ENSP00000356563.4:n.1038+123_1038+124insTGAGGACGAGCTATTACCGGA...
ENST00000585848.1:n.177+123_177+124insTGAGGACGAGCTATTACCGGATTAAACATAAGAATGGCTCCAGC
NM_003630.2:c.1038+123_1038+124insTGAGGACGAGCTATTACCGGATTAAACATAAGAATGGCTCCAGC	NP_003621.1:n.1038+123_1038+124insTGAGGACGAGCTATTACCGGATTAAAC...
NM_003630.3:c.1038+123_1038+124insTGAGGACGAGCTATTACCGGATTAAACATAAGAATGGCTCCAGC MANE Select	NP_003621.1:n.1038+123_1038+124insTGAGGACGAGCTATTACCGGATTAAAC...