Canonical Allele Identifier: CA2580093581

Gene: PEX12

Linked Data

• ClinVar Variation Id: 1994220
• ClinVar RCV Id: RCV002806700

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.35576141del , CM000679.2:g.35576141del	GRCh38
NC_000017.10:g.33903160del , CM000679.1:g.33903160del	GRCh37
NC_000017.9:g.30927273del	NCBI36
NG_008447.1:g.7501del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225873.9:c.725del MANE Select	ENSP00000225873.3:p.Gly242ValfsTer?
ENST00000586663.2:c.725del	ENSP00000466894.2:p.Gly242ValfsTer?
ENST00000225873.8:c.725del	ENSP00000225873.3:p.Gly242ValfsTer?
ENST00000586663.1:c.725del	ENSP00000466894.1:p.Gly242ValfsTer?
ENST00000613219.4:c.725del	ENSP00000482609.1:p.Gly242ValfsTer?
NM_000286.2:c.725del	NP_000277.1:p.Gly242ValfsTer?
NM_000286.3:c.725del MANE Select	NP_000277.1:p.Gly242ValfsTer?