Canonical Allele Identifier: CA538254

Gene: PEX10

Linked Data

• dbSNP Id: rs751010435
• ExAC: 1:2340324 A / AC
• gnomAD v2: 1-2340324-A-AC
• gnomAD v4: 1-2408885-A-AC
• MyVariant Identifiers: chr1:g.2340324_2340325insC (hg19) ; chr1:g.2408885_2408886insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408888dup , CM000663.2:g.2408888dup	GRCh38
NC_000001.10:g.2340327dup , CM000663.1:g.2340327dup	GRCh37
NC_000001.9:g.2330187dup	NCBI36
NG_008342.1:g.8686dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.194-28dup	ENSP00000288774.3:n.194-28dup
ENST00000447513.7:c.194-28dup MANE Select	ENSP00000407922.2:n.194-28dup
ENST00000650293.1:c.148-28dup
ENST00000288774.7:c.194-28dup	ENSP00000288774.3:n.194-28dup
ENST00000447513.6:c.194-28dup	ENSP00000407922.2:n.194-28dup
ENST00000502666.1:c.399-28dup	ENSP00000461951.1:n.399-28dup
ENST00000507596.5:c.194-28dup	ENSP00000424291.1:n.194-28dup
ENST00000508384.5:c.-239-28dup	ENSP00000464289.1:n.-239-28dup
ENST00000510434.1:c.194-28dup	ENSP00000423051.1:n.194-28dup
ENST00000514502.1:c.*211-28dup	ENSP00000425924.1:n.*211-28dup
ENST00000515760.1:n.328-28dup
NM_002617.3:c.194-28dup	NP_002608.1:n.194-28dup
NM_153818.1:c.194-28dup	NP_722540.1:n.194-28dup
XM_011541573.1:c.194-28dup	XP_011539875.1:n.194-28dup
XM_011541574.1:c.-239-28dup	XP_011539876.1:n.-239-28dup
XM_011541575.1:c.-239-28dup	XP_011539877.1:n.-239-28dup
XM_011541576.1:c.194-28dup	XP_011539878.1:n.194-28dup
XR_946666.1:n.314-28dup
XM_011541576.2:c.194-28dup	XP_011539878.1:n.194-28dup
XR_946666.2:n.263-28dup
NM_001374425.1:c.194-28dup	NP_001361354.1:n.194-28dup
NM_001374426.1:c.-239-28dup	NP_001361355.1:n.-239-28dup
NM_001374427.1:c.-239-28dup	NP_001361356.1:n.-239-28dup
NM_002617.4:c.194-28dup MANE Select	NP_002608.1:n.194-28dup
NM_153818.2:c.194-28dup	NP_722540.1:n.194-28dup
NR_164636.1:n.313-28dup