Canonical Allele Identifier: CA997786868

Gene: PEX10

Linked Data

• ClinVar Variation Id: 2131746
• ClinVar RCV Id: RCV003036408
• dbSNP Id: rs1643085902
• gnomAD v3: 1-2408590-CTCAG-C
• gnomAD v4: 1-2408590-CTCAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408595_2408598del , CM000663.2:g.2408595_2408598del	GRCh38
NC_000001.10:g.2340034_2340037del , CM000663.1:g.2340034_2340037del	GRCh37
NC_000001.9:g.2329894_2329897del	NCBI36
NG_008342.1:g.8978_8981del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.458_461del	ENSP00000288774.3:p.Thr153SerfsTer?
ENST00000447513.7:c.458_461del MANE Select	ENSP00000407922.2:p.Thr153SerfsTer?
ENST00000650293.1:c.412_415del
ENST00000288774.7:c.458_461del	ENSP00000288774.3:p.Thr153SerfsTer?
ENST00000447513.6:c.458_461del	ENSP00000407922.2:p.Thr153SerfsTer?
ENST00000507596.5:c.458_461del	ENSP00000424291.1:p.Thr153SerfsTer?
ENST00000508384.5:c.26_29del	ENSP00000464289.1:p.Thr9SerfsTer?
ENST00000510434.1:c.458_461del	ENSP00000423051.1:p.Thr153SerfsTer?
ENST00000515760.1:n.592_595del
NM_002617.3:c.458_461del	NP_002608.1:p.Thr153SerfsTer?
NM_153818.1:c.458_461del	NP_722540.1:p.Thr153SerfsTer?
XM_011541573.1:c.458_461del	XP_011539875.1:p.Thr153SerfsTer?
XM_011541574.1:c.26_29del	XP_011539876.1:p.Thr9SerfsTer?
XM_011541575.1:c.26_29del	XP_011539877.1:p.Thr9SerfsTer?
XM_011541576.1:c.458_461del	XP_011539878.1:p.Thr153SerfsTer?
XR_946666.1:n.578_581del
XM_011541576.2:c.458_461del	XP_011539878.1:p.Thr153SerfsTer?
XR_946666.2:n.527_530del
NM_001374425.1:c.458_461del	NP_001361354.1:p.Thr153SerfsTer?
NM_001374426.1:c.26_29del	NP_001361355.1:p.Thr9SerfsTer?
NM_001374427.1:c.26_29del	NP_001361356.1:p.Thr9SerfsTer?
NM_002617.4:c.458_461del MANE Select	NP_002608.1:p.Thr153SerfsTer?
NM_153818.2:c.458_461del	NP_722540.1:p.Thr153SerfsTer?
NR_164636.1:n.577_580del