Canonical Allele Identifier: CA2697552033

Gene: PEX10

Linked Data

• ClinVar Variation Id: 2766294
• ClinVar RCV Id: RCV003538142

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408805del , CM000663.2:g.2408805del	GRCh38
NC_000001.10:g.2340244del , CM000663.1:g.2340244del	GRCh37
NC_000001.9:g.2330104del	NCBI36
NG_008342.1:g.8767del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.247del	ENSP00000288774.3:p.Arg83GlyfsTer14
ENST00000447513.7:c.247del MANE Select	ENSP00000407922.2:p.Arg83GlyfsTer14
ENST00000650293.1:c.201del
ENST00000288774.7:c.247del	ENSP00000288774.3:p.Arg83GlyfsTer14
ENST00000447513.6:c.247del	ENSP00000407922.2:p.Arg83GlyfsTer14
ENST00000502666.1:c.452del	ENSP00000461951.1:n.452del
ENST00000507596.5:c.247del	ENSP00000424291.1:p.Arg83GlyfsTer14
ENST00000508384.5:c.-186del	ENSP00000464289.1:n.-186del
ENST00000510434.1:c.247del	ENSP00000423051.1:p.Arg83GlyfsTer14
ENST00000514502.1:c.*264del	ENSP00000425924.1:n.*264del
ENST00000515760.1:n.381del
NM_002617.3:c.247del	NP_002608.1:p.Arg83GlyfsTer14
NM_153818.1:c.247del	NP_722540.1:p.Arg83GlyfsTer14
XM_011541573.1:c.247del	XP_011539875.1:p.Arg83GlyfsTer14
XM_011541574.1:c.-186del	XP_011539876.1:n.-186del
XM_011541575.1:c.-186del	XP_011539877.1:n.-186del
XM_011541576.1:c.247del	XP_011539878.1:p.Arg83GlyfsTer14
XR_946666.1:n.367del
XM_011541576.2:c.247del	XP_011539878.1:p.Arg83GlyfsTer14
XR_946666.2:n.316del
NM_001374425.1:c.247del	NP_001361354.1:p.Arg83GlyfsTer14
NM_001374426.1:c.-186del	NP_001361355.1:n.-186del
NM_001374427.1:c.-186del	NP_001361356.1:n.-186del
NM_002617.4:c.247del MANE Select	NP_002608.1:p.Arg83GlyfsTer14
NM_153818.2:c.247del	NP_722540.1:p.Arg83GlyfsTer14
NR_164636.1:n.366del