Canonical Allele Identifier: CA2642720343

Gene: PEX10

Linked Data

• ClinVar Variation Id: 2869078
• ClinVar RCV Id: RCV003653991
• gnomAD v4: 1-2408688-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408692del , CM000663.2:g.2408692del	GRCh38
NC_000001.10:g.2340131del , CM000663.1:g.2340131del	GRCh37
NC_000001.9:g.2329991del	NCBI36
NG_008342.1:g.8883del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.363del	ENSP00000288774.3:p.Asp122ThrfsTer?
ENST00000447513.7:c.363del MANE Select	ENSP00000407922.2:p.Asp122ThrfsTer?
ENST00000650293.1:c.317del
ENST00000288774.7:c.363del	ENSP00000288774.3:p.Asp122ThrfsTer?
ENST00000447513.6:c.363del	ENSP00000407922.2:p.Asp122ThrfsTer?
ENST00000502666.1:c.568del	ENSP00000461951.1:n.568del
ENST00000507596.5:c.363del	ENSP00000424291.1:p.Asp122ThrfsTer?
ENST00000508384.5:c.-70del	ENSP00000464289.1:n.-70del
ENST00000510434.1:c.363del	ENSP00000423051.1:p.Asp122ThrfsTer?
ENST00000515760.1:n.497del
NM_002617.3:c.363del	NP_002608.1:p.Asp122ThrfsTer?
NM_153818.1:c.363del	NP_722540.1:p.Asp122ThrfsTer?
XM_011541573.1:c.363del	XP_011539875.1:p.Asp122ThrfsTer?
XM_011541574.1:c.-70del	XP_011539876.1:n.-70del
XM_011541575.1:c.-70del	XP_011539877.1:n.-70del
XM_011541576.1:c.363del	XP_011539878.1:p.Asp122ThrfsTer?
XR_946666.1:n.483del
XM_011541576.2:c.363del	XP_011539878.1:p.Asp122ThrfsTer?
XR_946666.2:n.432del
NM_001374425.1:c.363del	NP_001361354.1:p.Asp122ThrfsTer?
NM_001374426.1:c.-70del	NP_001361355.1:n.-70del
NM_001374427.1:c.-70del	NP_001361356.1:n.-70del
NM_002617.4:c.363del MANE Select	NP_002608.1:p.Asp122ThrfsTer?
NM_153818.2:c.363del	NP_722540.1:p.Asp122ThrfsTer?
NR_164636.1:n.482del