Canonical Allele Identifier: CA2739272226

Gene: PEX10

Linked Data

• ClinVar Variation Id: 2838340
• ClinVar RCV Id: RCV003652319

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408845del , CM000663.2:g.2408845del	GRCh38
NC_000001.10:g.2340284del , CM000663.1:g.2340284del	GRCh37
NC_000001.9:g.2330144del	NCBI36
NG_008342.1:g.8731del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.211del	ENSP00000288774.3:p.Glu71ArgfsTer26
ENST00000447513.7:c.211del MANE Select	ENSP00000407922.2:p.Glu71ArgfsTer26
ENST00000650293.1:c.165del
ENST00000288774.7:c.211del	ENSP00000288774.3:p.Glu71ArgfsTer26
ENST00000447513.6:c.211del	ENSP00000407922.2:p.Glu71ArgfsTer26
ENST00000502666.1:c.416del	ENSP00000461951.1:n.416del
ENST00000507596.5:c.211del	ENSP00000424291.1:p.Glu71ArgfsTer26
ENST00000508384.5:c.-222del	ENSP00000464289.1:n.-222del
ENST00000510434.1:c.211del	ENSP00000423051.1:p.Glu71ArgfsTer26
ENST00000514502.1:c.*228del	ENSP00000425924.1:n.*228del
ENST00000515760.1:n.345del
NM_002617.3:c.211del	NP_002608.1:p.Glu71ArgfsTer26
NM_153818.1:c.211del	NP_722540.1:p.Glu71ArgfsTer26
XM_011541573.1:c.211del	XP_011539875.1:p.Glu71ArgfsTer26
XM_011541574.1:c.-222del	XP_011539876.1:n.-222del
XM_011541575.1:c.-222del	XP_011539877.1:n.-222del
XM_011541576.1:c.211del	XP_011539878.1:p.Glu71ArgfsTer26
XR_946666.1:n.331del
XM_011541576.2:c.211del	XP_011539878.1:p.Glu71ArgfsTer26
XR_946666.2:n.280del
NM_001374425.1:c.211del	NP_001361354.1:p.Glu71ArgfsTer26
NM_001374426.1:c.-222del	NP_001361355.1:n.-222del
NM_001374427.1:c.-222del	NP_001361356.1:n.-222del
NM_002617.4:c.211del MANE Select	NP_002608.1:p.Glu71ArgfsTer26
NM_153818.2:c.211del	NP_722540.1:p.Glu71ArgfsTer26
NR_164636.1:n.330del