Canonical Allele Identifier: CA2573131883

Gene: PEX10

Linked Data

• ClinVar Variation Id: 1457525
• ClinVar RCV Id: RCV001953804
• dbSNP Id: rs2100428812

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408614_2408623del , CM000663.2:g.2408614_2408623del	GRCh38
NC_000001.10:g.2340053_2340062del , CM000663.1:g.2340053_2340062del	GRCh37
NC_000001.9:g.2329913_2329922del	NCBI36
NG_008342.1:g.8950_8959del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.430_439del	ENSP00000288774.3:p.Trp144ThrfsTer6
ENST00000447513.7:c.430_439del MANE Select	ENSP00000407922.2:p.Trp144ThrfsTer6
ENST00000650293.1:c.384_393del
ENST00000288774.7:c.430_439del	ENSP00000288774.3:p.Trp144ThrfsTer6
ENST00000447513.6:c.430_439del	ENSP00000407922.2:p.Trp144ThrfsTer6
ENST00000502666.1:c.635_644del	ENSP00000461951.1:n.635_644del
ENST00000507596.5:c.430_439del	ENSP00000424291.1:p.Trp144ThrfsTer6
ENST00000508384.5:c.-3_7del
ENST00000510434.1:c.430_439del	ENSP00000423051.1:p.Trp144ThrfsTer6
ENST00000515760.1:n.564_573del
NM_002617.3:c.430_439del	NP_002608.1:p.Trp144ThrfsTer6
NM_153818.1:c.430_439del	NP_722540.1:p.Trp144ThrfsTer6
XM_011541573.1:c.430_439del	XP_011539875.1:p.Trp144ThrfsTer6
XM_011541574.1:c.-3_7del
XM_011541575.1:c.-3_7del
XM_011541576.1:c.430_439del	XP_011539878.1:p.Trp144ThrfsTer6
XR_946666.1:n.550_559del
XM_011541576.2:c.430_439del	XP_011539878.1:p.Trp144ThrfsTer6
XR_946666.2:n.499_508del
NM_001374425.1:c.430_439del	NP_001361354.1:p.Trp144ThrfsTer6
NM_001374426.1:c.-3_7del
NM_001374427.1:c.-3_7del
NM_002617.4:c.430_439del MANE Select	NP_002608.1:p.Trp144ThrfsTer6
NM_153818.2:c.430_439del	NP_722540.1:p.Trp144ThrfsTer6
NR_164636.1:n.549_558del