Canonical Allele Identifier: CA290068182
Gene: PEX12 HGNC NCBI

Linked Data

ClinVar Variation Id: 1069736
ClinVar RCV Id: RCV001381697
dbSNP Id: rs867245161
gnomAD v2: 17-33902969-GCA-G
gnomAD v3: 17-35575950-GCA-G
gnomAD v4: 17-35575950-GCA-G
MyVariant Identifiers: chr17:g.33902970_33902971del (hg19) chr17:g.35575952_35575953del (hg38) chr17:g.35575951_35575952del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35575955_35575956del , CM000679.2:g.35575955_35575956del GRCh38
NC_000017.10:g.33902974_33902975del , CM000679.1:g.33902974_33902975del GRCh37
NC_000017.9:g.30927087_30927088del NCBI36
NG_008447.1:g.7686_7687del

Transcript Alleles

HGVS Amino-acid change
ENST00000225873.9:c.910_911del MANE Select ENSP00000225873.3:p.Cys304ProfsTer5
ENST00000586663.2:c.910_911del ENSP00000466894.2:p.Cys304ProfsTer5
ENST00000225873.8:c.910_911del ENSP00000225873.3:p.Cys304ProfsTer5
ENST00000586663.1:c.910_911del ENSP00000466894.1:p.Cys304ProfsTer5
ENST00000613219.4:c.910_911del ENSP00000482609.1:p.Cys304ProfsTer5
NM_000286.2:c.910_911del NP_000277.1:p.Cys304ProfsTer5
NM_000286.3:c.910_911del MANE Select NP_000277.1:p.Cys304ProfsTer5
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