Canonical Allele Identifier: CA8504819

Gene: PEX12

Linked Data

• dbSNP Id: rs771406750
• ExAC: 17:33902963 CAG / C
• gnomAD v2: 17-33902963-CAG-C
• gnomAD v4: 17-35575944-CAG-C
• MyVariant Identifiers: chr17:g.33902964_33902965del (hg19) ; chr17:g.35575945_35575946del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.35575945_35575946del , CM000679.2:g.35575945_35575946del	GRCh38
NC_000017.10:g.33902964_33902965del , CM000679.1:g.33902964_33902965del	GRCh37
NC_000017.9:g.30927077_30927078del	NCBI36
NG_008447.1:g.7692_7693del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225873.9:c.916_917del MANE Select	ENSP00000225873.3:p.Leu306ValfsTer3
ENST00000586663.2:c.916_917del	ENSP00000466894.2:p.Leu306ValfsTer3
ENST00000225873.8:c.916_917del	ENSP00000225873.3:p.Leu306ValfsTer3
ENST00000586663.1:c.916_917del	ENSP00000466894.1:p.Leu306ValfsTer3
ENST00000613219.4:c.916_917del	ENSP00000482609.1:p.Leu306ValfsTer3
NM_000286.2:c.916_917del	NP_000277.1:p.Leu306ValfsTer3
NM_000286.3:c.916_917del MANE Select	NP_000277.1:p.Leu306ValfsTer3