Canonical Allele Identifier: CA2697552032

Gene: PEX10

Linked Data

• ClinVar Variation Id: 2701439
• ClinVar RCV Id: RCV003536259

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408603del , CM000663.2:g.2408603del	GRCh38
NC_000001.10:g.2340042del , CM000663.1:g.2340042del	GRCh37
NC_000001.9:g.2329902del	NCBI36
NG_008342.1:g.8970del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.450del	ENSP00000288774.3:p.Thr151ProfsTer2
ENST00000447513.7:c.450del MANE Select	ENSP00000407922.2:p.Thr151ProfsTer2
ENST00000650293.1:c.404del
ENST00000288774.7:c.450del	ENSP00000288774.3:p.Thr151ProfsTer2
ENST00000447513.6:c.450del	ENSP00000407922.2:p.Thr151ProfsTer2
ENST00000507596.5:c.450del	ENSP00000424291.1:p.Thr151ProfsTer2
ENST00000508384.5:c.18del	ENSP00000464289.1:p.Thr7ProfsTer2
ENST00000510434.1:c.450del	ENSP00000423051.1:p.Thr151ProfsTer2
ENST00000515760.1:n.584del
NM_002617.3:c.450del	NP_002608.1:p.Thr151ProfsTer2
NM_153818.1:c.450del	NP_722540.1:p.Thr151ProfsTer2
XM_011541573.1:c.450del	XP_011539875.1:p.Thr151ProfsTer2
XM_011541574.1:c.18del	XP_011539876.1:p.Thr7ProfsTer2
XM_011541575.1:c.18del	XP_011539877.1:p.Thr7ProfsTer2
XM_011541576.1:c.450del	XP_011539878.1:p.Thr151ProfsTer2
XR_946666.1:n.570del
XM_011541576.2:c.450del	XP_011539878.1:p.Thr151ProfsTer2
XR_946666.2:n.519del
NM_001374425.1:c.450del	NP_001361354.1:p.Thr151ProfsTer2
NM_001374426.1:c.18del	NP_001361355.1:p.Thr7ProfsTer2
NM_001374427.1:c.18del	NP_001361356.1:p.Thr7ProfsTer2
NM_002617.4:c.450del MANE Select	NP_002608.1:p.Thr151ProfsTer2
NM_153818.2:c.450del	NP_722540.1:p.Thr151ProfsTer2
NR_164636.1:n.569del