Canonical Allele Identifier: CA2580074566

Gene: PEX6

Linked Data

• ClinVar Variation Id: 2030551
• ClinVar RCV Id: RCV002871835

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969684del , CM000668.2:g.42969684del	GRCh38
NC_000006.11:g.42937422del , CM000668.1:g.42937422del	GRCh37
NC_000006.10:g.43045400del	NCBI36
NG_008370.1:g.14561del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1352del MANE Select	ENSP00000303511.8:p.Pro451LeufsTer10
ENST00000244546.4:c.1352del	ENSP00000244546.4:p.Pro451LeufsTer10
ENST00000304611.12:c.1352del	ENSP00000303511.8:p.Pro451LeufsTer10
NM_000287.3:c.1352del	NP_000278.3:p.Pro451LeufsTer10
NM_001316313.1:c.1088del	NP_001303242.1:p.Pro363LeufsTer10
NR_133009.1:n.1445del
XM_011514661.1:c.1268del	XP_011512963.1:p.Pro423LeufsTer10
XR_926246.1:n.1445del
XM_011514661.2:c.1268del	XP_011512963.1:p.Pro423LeufsTer10
XR_001743466.2:n.2426del
NM_000287.4:c.1352del MANE Select	NP_000278.3:p.Pro451LeufsTer10
NM_001316313.2:c.1088del	NP_001303242.1:p.Pro363LeufsTer10
NR_133009.2:n.1383del