Canonical Allele Identifier: CA3811371

Gene: PEX6

Linked Data

• ClinVar Variation Id: 1323439
• ClinVar RCV Id: RCV002034573
• dbSNP Id: rs770055192
• ExAC: 6:42937459 C / CA
• gnomAD v2: 6-42937459-C-CA
• gnomAD v3: 6-42969721-C-CA
• gnomAD v4: 6-42969721-C-CA
• MyVariant Identifiers: chr6:g.42937459_42937460insA (hg19) ; chr6:g.42969721_42969722insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969722dup , CM000668.2:g.42969722dup	GRCh38
NC_000006.11:g.42937460dup , CM000668.1:g.42937460dup	GRCh37
NC_000006.10:g.43045438dup	NCBI36
NG_008370.1:g.14522dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000304611.13:c.1313dup MANE Select	ENSP00000303511.8:p.Glu439GlyfsTer6
ENST00000244546.4:c.1313dup	ENSP00000244546.4:p.Glu439GlyfsTer6
ENST00000304611.12:c.1313dup	ENSP00000303511.8:p.Glu439GlyfsTer6
NM_000287.3:c.1313dup	NP_000278.3:p.Glu439GlyfsTer6
NM_001316313.1:c.1049dup	NP_001303242.1:p.Glu351GlyfsTer6
NR_133009.1:n.1406dup
XM_011514661.1:c.1229dup	XP_011512963.1:p.Glu411GlyfsTer6
XR_926246.1:n.1406dup
XM_011514661.2:c.1229dup	XP_011512963.1:p.Glu411GlyfsTer6
XR_001743466.2:n.2387dup
NM_000287.4:c.1313dup MANE Select	NP_000278.3:p.Glu439GlyfsTer6
NM_001316313.2:c.1049dup	NP_001303242.1:p.Glu351GlyfsTer6
NR_133009.2:n.1344dup