Canonical Allele Identifier: CA2580062500

Gene: PEX10

Linked Data

• ClinVar Variation Id: 1724832
• ClinVar RCV Id: RCV002307891

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408604_2408611del , CM000663.2:g.2408604_2408611del	GRCh38
NC_000001.10:g.2340043_2340050del , CM000663.1:g.2340043_2340050del	GRCh37
NC_000001.9:g.2329903_2329910del	NCBI36
NG_008342.1:g.8965_8972del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.445_452del	ENSP00000288774.3:p.Thr149ProfsTer3
ENST00000447513.7:c.445_452del MANE Select	ENSP00000407922.2:p.Thr149ProfsTer3
ENST00000650293.1:c.399_406del
ENST00000288774.7:c.445_452del	ENSP00000288774.3:p.Thr149ProfsTer3
ENST00000447513.6:c.445_452del	ENSP00000407922.2:p.Thr149ProfsTer3
ENST00000507596.5:c.445_452del	ENSP00000424291.1:p.Thr149ProfsTer3
ENST00000508384.5:c.13_20del	ENSP00000464289.1:p.Thr5ProfsTer3
ENST00000510434.1:c.445_452del	ENSP00000423051.1:p.Thr149ProfsTer3
ENST00000515760.1:n.579_586del
NM_002617.3:c.445_452del	NP_002608.1:p.Thr149ProfsTer3
NM_153818.1:c.445_452del	NP_722540.1:p.Thr149ProfsTer3
XM_011541573.1:c.445_452del	XP_011539875.1:p.Thr149ProfsTer3
XM_011541574.1:c.13_20del	XP_011539876.1:p.Thr5ProfsTer3
XM_011541575.1:c.13_20del	XP_011539877.1:p.Thr5ProfsTer3
XM_011541576.1:c.445_452del	XP_011539878.1:p.Thr149ProfsTer3
XR_946666.1:n.565_572del
XM_011541576.2:c.445_452del	XP_011539878.1:p.Thr149ProfsTer3
XR_946666.2:n.514_521del
NM_001374425.1:c.445_452del	NP_001361354.1:p.Thr149ProfsTer3
NM_001374426.1:c.13_20del	NP_001361355.1:p.Thr5ProfsTer3
NM_001374427.1:c.13_20del	NP_001361356.1:p.Thr5ProfsTer3
NM_002617.4:c.445_452del MANE Select	NP_002608.1:p.Thr149ProfsTer3
NM_153818.2:c.445_452del	NP_722540.1:p.Thr149ProfsTer3
NR_164636.1:n.564_571del