Canonical Allele Identifier: CA587156188

Gene: TOPORS

Linked Data

• ClinVar Variation Id: 2009863
• ClinVar RCV Id: RCV002850903
• dbSNP Id: rs1216086465
• gnomAD v2: 9-32550845-TG-T
• MyVariant Identifiers: chr9:g.32550846del (hg19) ; chr9:g.32550848del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32550848del , CM000671.2:g.32550848del	GRCh38
NC_000009.11:g.32550846del , CM000671.1:g.32550846del	GRCh37
NC_000009.10:g.32540846del	NCBI36
NG_017050.1:g.6777del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.124del MANE Select	ENSP00000353735.2:p.His42ThrfsTer26
ENST00000680198.1:c.124del	ENSP00000505143.1:p.His42ThrfsTer?
ENST00000681750.1:c.-119del	ENSP00000506413.1:n.-119del
ENST00000360538.6:c.124del	ENSP00000353735.2:p.His42ThrfsTer26
ENST00000379858.1:c.3+1586del	ENSP00000369187.1:n.3+1586del
NM_001195622.1:c.3+1586del	NP_001182551.1:n.3+1586del
NM_005802.4:c.124del	NP_005793.2:p.His42ThrfsTer26
NM_005802.5:c.124del MANE Select	NP_005793.2:p.His42ThrfsTer26
NM_001195622.2:c.3+1586del	NP_001182551.1:n.3+1586del