Canonical Allele Identifier: CA2695197952

Gene: PEX10

Linked Data

• ClinVar Variation Id: 2677653
• ClinVar RCV Id: RCV003476787

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408689_2408706delinsCAGGGGCCCA , CM000663.2:g.2408689_2408706delinsCAGGGGCCCA	GRCh38
NC_000001.10:g.2340128_2340145delinsCAGGGGCCCA , CM000663.1:g.2340128_2340145delinsCAGGGGCCCA	GRCh37
NC_000001.9:g.2329988_2330005delinsCAGGGGCCCA	NCBI36
NG_008342.1:g.8866_8883delinsTGGGCCCCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.346_363delinsTGGGCCCCTG	ENSP00000288774.3:p.Glu116TrpfsTer?
ENST00000447513.7:c.346_363delinsTGGGCCCCTG MANE Select	ENSP00000407922.2:p.Glu116TrpfsTer?
ENST00000650293.1:c.300_317delinsTGGGCCCCTG
ENST00000288774.7:c.346_363delinsTGGGCCCCTG	ENSP00000288774.3:p.Glu116TrpfsTer?
ENST00000447513.6:c.346_363delinsTGGGCCCCTG	ENSP00000407922.2:p.Glu116TrpfsTer?
ENST00000502666.1:c.551_568delinsTGGGCCCCTG	ENSP00000461951.1:n.551_568delinsTGGGCCCCTG
ENST00000507596.5:c.346_363delinsTGGGCCCCTG	ENSP00000424291.1:p.Glu116TrpfsTer?
ENST00000508384.5:c.-87_-70delinsTGGGCCCCTG	ENSP00000464289.1:n.-87_-70delinsTGGGCCCCTG
ENST00000510434.1:c.346_363delinsTGGGCCCCTG	ENSP00000423051.1:p.Glu116TrpfsTer?
ENST00000515760.1:n.480_497delinsTGGGCCCCTG
NM_002617.3:c.346_363delinsTGGGCCCCTG	NP_002608.1:p.Glu116TrpfsTer?
NM_153818.1:c.346_363delinsTGGGCCCCTG	NP_722540.1:p.Glu116TrpfsTer?
XM_011541573.1:c.346_363delinsTGGGCCCCTG	XP_011539875.1:p.Glu116TrpfsTer?
XM_011541574.1:c.-87_-70delinsTGGGCCCCTG	XP_011539876.1:n.-87_-70delinsTGGGCCCCTG
XM_011541575.1:c.-87_-70delinsTGGGCCCCTG	XP_011539877.1:n.-87_-70delinsTGGGCCCCTG
XM_011541576.1:c.346_363delinsTGGGCCCCTG	XP_011539878.1:p.Glu116TrpfsTer?
XR_946666.1:n.466_483delinsTGGGCCCCTG
XM_011541576.2:c.346_363delinsTGGGCCCCTG	XP_011539878.1:p.Glu116TrpfsTer?
XR_946666.2:n.415_432delinsTGGGCCCCTG
NM_001374425.1:c.346_363delinsTGGGCCCCTG	NP_001361354.1:p.Glu116TrpfsTer?
NM_001374426.1:c.-87_-70delinsTGGGCCCCTG	NP_001361355.1:n.-87_-70delinsTGGGCCCCTG
NM_001374427.1:c.-87_-70delinsTGGGCCCCTG	NP_001361356.1:n.-87_-70delinsTGGGCCCCTG
NM_002617.4:c.346_363delinsTGGGCCCCTG MANE Select	NP_002608.1:p.Glu116TrpfsTer?
NM_153818.2:c.346_363delinsTGGGCCCCTG	NP_722540.1:p.Glu116TrpfsTer?
NR_164636.1:n.465_482delinsTGGGCCCCTG