Canonical Allele Identifier: CA1139655617

Gene: PEX10

Linked Data

• ClinVar Variation Id: 951635
• ClinVar RCV Id: RCV001223596
• dbSNP Id: rs1643093232

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408760_2408761insCGTCACCAGCA , CM000663.2:g.2408760_2408761insCGTCACCAGCA	GRCh38
NC_000001.10:g.2340199_2340200insCGTCACCAGCA , CM000663.1:g.2340199_2340200insCGTCACCAGCA	GRCh37
NC_000001.9:g.2330059_2330060insCGTCACCAGCA	NCBI36
NG_008342.1:g.8811_8812insTGCTGGTGACG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.291_292insTGCTGGTGACG	ENSP00000288774.3:p.Leu98CysfsTer3
ENST00000447513.7:c.291_292insTGCTGGTGACG MANE Select	ENSP00000407922.2:p.Leu98CysfsTer3
ENST00000650293.1:c.245_246insTGCTGGTGACG
ENST00000288774.7:c.291_292insTGCTGGTGACG	ENSP00000288774.3:p.Leu98CysfsTer3
ENST00000447513.6:c.291_292insTGCTGGTGACG	ENSP00000407922.2:p.Leu98CysfsTer3
ENST00000502666.1:c.496_497insTGCTGGTGACG	ENSP00000461951.1:n.496_497insTGCTGGTGACG
ENST00000507596.5:c.291_292insTGCTGGTGACG	ENSP00000424291.1:p.Leu98CysfsTer3
ENST00000508384.5:c.-142_-141insTGCTGGTGACG	ENSP00000464289.1:n.-142_-141insTGCTGGTGACG
ENST00000510434.1:c.291_292insTGCTGGTGACG	ENSP00000423051.1:p.Leu98CysfsTer3
ENST00000514502.1:c.*308_*309insTGCTGGTGACG	ENSP00000425924.1:n.*308_*309insTGCTGGTGACG
ENST00000515760.1:n.425_426insTGCTGGTGACG
NM_002617.3:c.291_292insTGCTGGTGACG	NP_002608.1:p.Leu98CysfsTer3
NM_153818.1:c.291_292insTGCTGGTGACG	NP_722540.1:p.Leu98CysfsTer3
XM_011541573.1:c.291_292insTGCTGGTGACG	XP_011539875.1:p.Leu98CysfsTer3
XM_011541574.1:c.-142_-141insTGCTGGTGACG	XP_011539876.1:n.-142_-141insTGCTGGTGACG
XM_011541575.1:c.-142_-141insTGCTGGTGACG	XP_011539877.1:n.-142_-141insTGCTGGTGACG
XM_011541576.1:c.291_292insTGCTGGTGACG	XP_011539878.1:p.Leu98CysfsTer3
XR_946666.1:n.411_412insTGCTGGTGACG
XM_011541576.2:c.291_292insTGCTGGTGACG	XP_011539878.1:p.Leu98CysfsTer3
XR_946666.2:n.360_361insTGCTGGTGACG
NM_001374425.1:c.291_292insTGCTGGTGACG	NP_001361354.1:p.Leu98CysfsTer3
NM_001374426.1:c.-142_-141insTGCTGGTGACG	NP_001361355.1:n.-142_-141insTGCTGGTGACG
NM_001374427.1:c.-142_-141insTGCTGGTGACG	NP_001361356.1:n.-142_-141insTGCTGGTGACG
NM_002617.4:c.291_292insTGCTGGTGACG MANE Select	NP_002608.1:p.Leu98CysfsTer3
NM_153818.2:c.291_292insTGCTGGTGACG	NP_722540.1:p.Leu98CysfsTer3
NR_164636.1:n.410_411insTGCTGGTGACG