Canonical Allele Identifier: CA2580062501

Gene: PEX10

Linked Data

• ClinVar Variation Id: 1698651
• ClinVar RCV Id: RCV002271928
• dbSNP Id: rs2100429450

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408714_2408717del , CM000663.2:g.2408714_2408717del	GRCh38
NC_000001.10:g.2340153_2340156del , CM000663.1:g.2340153_2340156del	GRCh37
NC_000001.9:g.2330013_2330016del	NCBI36
NG_008342.1:g.8855_8858del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.335_338del	ENSP00000288774.3:p.Pro112ArgfsTer?
ENST00000447513.7:c.335_338del MANE Select	ENSP00000407922.2:p.Pro112ArgfsTer?
ENST00000650293.1:c.289_292del
ENST00000288774.7:c.335_338del	ENSP00000288774.3:p.Pro112ArgfsTer?
ENST00000447513.6:c.335_338del	ENSP00000407922.2:p.Pro112ArgfsTer?
ENST00000502666.1:c.540_543del	ENSP00000461951.1:n.540_543del
ENST00000507596.5:c.335_338del	ENSP00000424291.1:p.Pro112ArgfsTer?
ENST00000508384.5:c.-98_-95del	ENSP00000464289.1:n.-98_-95del
ENST00000510434.1:c.335_338del	ENSP00000423051.1:p.Pro112ArgfsTer?
ENST00000515760.1:n.469_472del
NM_002617.3:c.335_338del	NP_002608.1:p.Pro112ArgfsTer?
NM_153818.1:c.335_338del	NP_722540.1:p.Pro112ArgfsTer?
XM_011541573.1:c.335_338del	XP_011539875.1:p.Pro112ArgfsTer?
XM_011541574.1:c.-98_-95del	XP_011539876.1:n.-98_-95del
XM_011541575.1:c.-98_-95del	XP_011539877.1:n.-98_-95del
XM_011541576.1:c.335_338del	XP_011539878.1:p.Pro112ArgfsTer?
XR_946666.1:n.455_458del
XM_011541576.2:c.335_338del	XP_011539878.1:p.Pro112ArgfsTer?
XR_946666.2:n.404_407del
NM_001374425.1:c.335_338del	NP_001361354.1:p.Pro112ArgfsTer?
NM_001374426.1:c.-98_-95del	NP_001361355.1:n.-98_-95del
NM_001374427.1:c.-98_-95del	NP_001361356.1:n.-98_-95del
NM_002617.4:c.335_338del MANE Select	NP_002608.1:p.Pro112ArgfsTer?
NM_153818.2:c.335_338del	NP_722540.1:p.Pro112ArgfsTer?
NR_164636.1:n.454_457del