Canonical Allele Identifier: CA149043315
Gene: PEX3 HGNC NCBI

Linked Data

dbSNP Id: rs373007302
gnomAD v2: 6-143806162-G-GT
gnomAD v3: 6-143485025-G-GT
gnomAD v4: 6-143485025-G-GT
MyVariant Identifiers: chr6:g.143806163_143806164insT (hg19) chr6:g.143806162_143806163insT (hg19) chr6:g.143485026_143485027insT (hg38) chr6:g.143485025_143485026insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.143485033dup , CM000668.2:g.143485033dup GRCh38
NC_000006.11:g.143806170dup , CM000668.1:g.143806170dup GRCh37
NC_000006.10:g.143847863dup NCBI36
NG_008459.1:g.39253dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000367591.5:c.942-119dup MANE Select ENSP00000356563.4:n.942-119dup
ENST00000367591.4:c.942-119dup ENSP00000356563.4:n.942-119dup
NM_003630.2:c.942-119dup NP_003621.1:n.942-119dup
NM_003630.3:c.942-119dup MANE Select NP_003621.1:n.942-119dup
Search 100 bp 5'
Search 100 bp 3'