Canonical Allele Identifier: CA521014129

Gene: PEX10

Linked Data

• dbSNP Id: rs1249477769
• gnomAD v2: 1-2340048-T-TG
• gnomAD v4: 1-2408609-T-TG
• MyVariant Identifiers: chr1:g.2340048_2340049insG (hg19) ; chr1:g.2408609_2408610insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408611dup , CM000663.2:g.2408611dup	GRCh38
NC_000001.10:g.2340050dup , CM000663.1:g.2340050dup	GRCh37
NC_000001.9:g.2329910dup	NCBI36
NG_008342.1:g.8962dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.442dup	ENSP00000288774.3:p.His148ProfsTer7
ENST00000447513.7:c.442dup MANE Select	ENSP00000407922.2:p.His148ProfsTer7
ENST00000650293.1:c.396dup
ENST00000288774.7:c.442dup	ENSP00000288774.3:p.His148ProfsTer7
ENST00000447513.6:c.442dup	ENSP00000407922.2:p.His148ProfsTer7
ENST00000502666.1:c.647dup	ENSP00000461951.1:n.647dup
ENST00000507596.5:c.442dup	ENSP00000424291.1:p.His148ProfsTer7
ENST00000508384.5:c.10dup	ENSP00000464289.1:p.His4ProfsTer7
ENST00000510434.1:c.442dup	ENSP00000423051.1:p.His148ProfsTer7
ENST00000515760.1:n.576dup
NM_002617.3:c.442dup	NP_002608.1:p.His148ProfsTer7
NM_153818.1:c.442dup	NP_722540.1:p.His148ProfsTer7
XM_011541573.1:c.442dup	XP_011539875.1:p.His148ProfsTer7
XM_011541574.1:c.10dup	XP_011539876.1:p.His4ProfsTer7
XM_011541575.1:c.10dup	XP_011539877.1:p.His4ProfsTer7
XM_011541576.1:c.442dup	XP_011539878.1:p.His148ProfsTer7
XR_946666.1:n.562dup
XM_011541576.2:c.442dup	XP_011539878.1:p.His148ProfsTer7
XR_946666.2:n.511dup
NM_001374425.1:c.442dup	NP_001361354.1:p.His148ProfsTer7
NM_001374426.1:c.10dup	NP_001361355.1:p.His4ProfsTer7
NM_001374427.1:c.10dup	NP_001361356.1:p.His4ProfsTer7
NM_002617.4:c.442dup MANE Select	NP_002608.1:p.His148ProfsTer7
NM_153818.2:c.442dup	NP_722540.1:p.His148ProfsTer7
NR_164636.1:n.561dup