Canonical Allele Identifier: CA8504933

Gene: PEX12

Linked Data

• ClinVar Variation Id: 501646
• ClinVar RCV Id: RCV000595990 ; RCV000665252 ; RCV000690109 ; RCV000781708
• dbSNP Id: rs61752100
• ExAC: 17:33904465 CTCTT / C
• gnomAD v2: 17-33904465-CTCTT-C
• gnomAD v3: 17-35577446-CTCTT-C
• gnomAD v4: 17-35577446-CTCTT-C
• MyVariant Identifiers: chr17:g.33904466_33904469del (hg19) ; chr17:g.35577447_35577450del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.35577448_35577451del , CM000679.2:g.35577448_35577451del	GRCh38
NC_000017.10:g.33904467_33904470del , CM000679.1:g.33904467_33904470del	GRCh37
NC_000017.9:g.30928580_30928583del	NCBI36
NG_008447.1:g.6188_6191del

Transcript Alleles

HGVS	Amino-acid change
ENST00000225873.9:c.268_271del MANE Select	ENSP00000225873.3:p.Lys90GlufsTer3
ENST00000586663.2:c.268_271del	ENSP00000466894.2:p.Lys90GlufsTer3
ENST00000225873.8:c.268_271del	ENSP00000225873.3:p.Lys90GlufsTer3
ENST00000585380.1:c.268_271del	ENSP00000466280.1:p.Lys90GlufsTer3
ENST00000586663.1:c.268_271del	ENSP00000466894.1:p.Lys90GlufsTer3
ENST00000613219.4:c.268_271del	ENSP00000482609.1:p.Lys90GlufsTer3
NM_000286.2:c.268_271del	NP_000277.1:p.Lys90GlufsTer3
NM_000286.3:c.268_271del MANE Select	NP_000277.1:p.Lys90GlufsTer3