Canonical Allele Identifier: CA863300607

Gene: TOPORS

Linked Data

• dbSNP Id: rs1263514376
• gnomAD v3: 9-32550763-ATC-A
• gnomAD v4: 9-32550763-ATC-A
• MyVariant Identifiers: chr9:g.32550762_32550763del (hg19) ; chr9:g.32550764_32550765del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32550766_32550767del , CM000671.2:g.32550766_32550767del	GRCh38
NC_000009.11:g.32550764_32550765del , CM000671.1:g.32550764_32550765del	GRCh37
NC_000009.10:g.32540764_32540765del	NCBI36
NG_017050.1:g.6860_6861del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.198+9_198+10del MANE Select	ENSP00000353735.2:n.198+9_198+10del
ENST00000680198.1:c.198+9_198+10del	ENSP00000505143.1:n.198+9_198+10del
ENST00000681750.1:c.-45+9_-45+10del	ENSP00000506413.1:n.-45+9_-45+10del
ENST00000360538.6:c.198+9_198+10del	ENSP00000353735.2:n.198+9_198+10del
ENST00000379858.1:c.3+1669_3+1670del	ENSP00000369187.1:n.3+1669_3+1670del
NM_001195622.1:c.3+1669_3+1670del	NP_001182551.1:n.3+1669_3+1670del
NM_005802.4:c.198+9_198+10del	NP_005793.2:n.198+9_198+10del
NM_005802.5:c.198+9_198+10del MANE Select	NP_005793.2:n.198+9_198+10del
NM_001195622.2:c.3+1669_3+1670del	NP_001182551.1:n.3+1669_3+1670del