Canonical Allele Identifier: CA2739267444
Gene: PEX12 HGNC NCBI

Linked Data

ClinVar Variation Id: 2840225
ClinVar RCV Id: RCV003652366
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35576032_35576035del , CM000679.2:g.35576032_35576035del GRCh38
NC_000017.10:g.33903051_33903054del , CM000679.1:g.33903051_33903054del GRCh37
NC_000017.9:g.30927164_30927167del NCBI36
NG_008447.1:g.7605_7608del

Transcript Alleles

HGVS Amino-acid change
ENST00000225873.9:c.829_832del MANE Select ENSP00000225873.3:p.Thr277ProfsTer11
ENST00000586663.2:c.829_832del ENSP00000466894.2:p.Thr277ProfsTer11
ENST00000225873.8:c.829_832del ENSP00000225873.3:p.Thr277ProfsTer11
ENST00000586663.1:c.829_832del ENSP00000466894.1:p.Thr277ProfsTer11
ENST00000613219.4:c.829_832del ENSP00000482609.1:p.Thr277ProfsTer11
NM_000286.2:c.829_832del NP_000277.1:p.Thr277ProfsTer11
NM_000286.3:c.829_832del MANE Select NP_000277.1:p.Thr277ProfsTer11
Search 100 bp 5'
Search 100 bp 3'