Canonical Allele Identifier: CA2695197950

Gene: PEX10

Linked Data

• ClinVar Variation Id: 2677661
• ClinVar RCV Id: RCV003476795

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408630_2408631dup , CM000663.2:g.2408630_2408631dup	GRCh38
NC_000001.10:g.2340069_2340070dup , CM000663.1:g.2340069_2340070dup	GRCh37
NC_000001.9:g.2329929_2329930dup	NCBI36
NG_008342.1:g.8944_8945dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.424_425dup	ENSP00000288774.3:p.Arg143GlyfsTer11
ENST00000447513.7:c.424_425dup MANE Select	ENSP00000407922.2:p.Arg143GlyfsTer11
ENST00000650293.1:c.378_379dup
ENST00000288774.7:c.424_425dup	ENSP00000288774.3:p.Arg143GlyfsTer11
ENST00000447513.6:c.424_425dup	ENSP00000407922.2:p.Arg143GlyfsTer11
ENST00000502666.1:c.629_630dup	ENSP00000461951.1:n.629_630dup
ENST00000507596.5:c.424_425dup	ENSP00000424291.1:p.Arg143GlyfsTer11
ENST00000508384.5:c.-9_-8dup	ENSP00000464289.1:n.-9_-8dup
ENST00000510434.1:c.424_425dup	ENSP00000423051.1:p.Arg143GlyfsTer11
ENST00000515760.1:n.558_559dup
NM_002617.3:c.424_425dup	NP_002608.1:p.Arg143GlyfsTer11
NM_153818.1:c.424_425dup	NP_722540.1:p.Arg143GlyfsTer11
XM_011541573.1:c.424_425dup	XP_011539875.1:p.Arg143GlyfsTer11
XM_011541574.1:c.-9_-8dup	XP_011539876.1:n.-9_-8dup
XM_011541575.1:c.-9_-8dup	XP_011539877.1:n.-9_-8dup
XM_011541576.1:c.424_425dup	XP_011539878.1:p.Arg143GlyfsTer11
XR_946666.1:n.544_545dup
XM_011541576.2:c.424_425dup	XP_011539878.1:p.Arg143GlyfsTer11
XR_946666.2:n.493_494dup
NM_001374425.1:c.424_425dup	NP_001361354.1:p.Arg143GlyfsTer11
NM_001374426.1:c.-9_-8dup	NP_001361355.1:n.-9_-8dup
NM_001374427.1:c.-9_-8dup	NP_001361356.1:n.-9_-8dup
NM_002617.4:c.424_425dup MANE Select	NP_002608.1:p.Arg143GlyfsTer11
NM_153818.2:c.424_425dup	NP_722540.1:p.Arg143GlyfsTer11
NR_164636.1:n.543_544dup