Canonical Allele Identifier: CA203004

Gene: PEX6

Linked Data

• ClinVar Variation Id: 356797
• ClinVar RCV Id: RCV000178749 ; RCV000265794 ; RCV000676095 ; RCV001080419 ; RCV001276619
• dbSNP Id: rs200121485
• ExAC: 6:42937544 G / GAA
• gnomAD v2: 6-42937544-G-GAA
• gnomAD v3: 6-42969806-G-GAA
• gnomAD v4: 6-42969806-G-GAA
• MyVariant Identifiers: chr6:g.42937545_42937546dupAA (hg19) ; chr6:g.42937544_42937545insAA (hg19) ; chr6:g.42969807_42969808dupAA (hg38) ; chr6:g.42969806_42969807insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969808_42969809dup , CM000668.2:g.42969808_42969809dup	GRCh38
NC_000006.11:g.42937546_42937547dup , CM000668.1:g.42937546_42937547dup	GRCh37
NC_000006.10:g.43045524_43045525dup	NCBI36
NG_008370.1:g.14436_14437dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1234-7_1234-6dup MANE Select	ENSP00000303511.8:n.1234-7_1234-6dup
ENST00000244546.4:c.1234-7_1234-6dup	ENSP00000244546.4:n.1234-7_1234-6dup
ENST00000304611.12:c.1234-7_1234-6dup	ENSP00000303511.8:n.1234-7_1234-6dup
NM_000287.3:c.1234-7_1234-6dup	NP_000278.3:n.1234-7_1234-6dup
NM_001316313.1:c.970-7_970-6dup	NP_001303242.1:n.970-7_970-6dup
NR_133009.1:n.1327-7_1327-6dup
XM_011514661.1:c.1150-7_1150-6dup	XP_011512963.1:n.1150-7_1150-6dup
XR_926246.1:n.1327-7_1327-6dup
XM_011514661.2:c.1150-7_1150-6dup	XP_011512963.1:n.1150-7_1150-6dup
XR_001743466.2:n.2308-7_2308-6dup
NM_000287.4:c.1234-7_1234-6dup MANE Select	NP_000278.3:n.1234-7_1234-6dup
NM_001316313.2:c.970-7_970-6dup	NP_001303242.1:n.970-7_970-6dup
NR_133009.2:n.1265-7_1265-6dup