Canonical Allele Identifier: CA587565241

Gene: TOPORS

Linked Data

• dbSNP Id: rs1563987142
• gnomAD v2: 9-32550945-A-AC
• gnomAD v4: 9-32550947-A-AC
• MyVariant Identifiers: chr9:g.32550945_32550946insC (hg19) ; chr9:g.32550947_32550948insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32550951dup , CM000671.2:g.32550951dup	GRCh38
NC_000009.11:g.32550949dup , CM000671.1:g.32550949dup	GRCh37
NC_000009.10:g.32540949dup	NCBI36
NG_017050.1:g.6677dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.24dup MANE Select	ENSP00000353735.2:p.Ser9ValfsTer9
ENST00000680198.1:c.24dup	ENSP00000505143.1:p.Ser9ValfsTer9
ENST00000681750.1:c.-219dup	ENSP00000506413.1:n.-219dup
ENST00000360538.6:c.24dup	ENSP00000353735.2:p.Ser9ValfsTer9
ENST00000379858.1:c.3+1486dup	ENSP00000369187.1:n.3+1486dup
NM_001195622.1:c.3+1486dup	NP_001182551.1:n.3+1486dup
NM_005802.4:c.24dup	NP_005793.2:p.Ser9ValfsTer9
NM_005802.5:c.24dup MANE Select	NP_005793.2:p.Ser9ValfsTer9
NM_001195622.2:c.3+1486dup	NP_001182551.1:n.3+1486dup