Canonical Allele Identifier: CA1844697252

Gene: TOPORS

Linked Data

• dbSNP Id: rs1449084601
• gnomAD v4: 9-32550628-GGGCCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32550640_32550645del , CM000671.2:g.32550640_32550645del	GRCh38
NC_000009.11:g.32550638_32550643del , CM000671.1:g.32550638_32550643del	GRCh37
NC_000009.10:g.32540638_32540643del	NCBI36
NG_017050.1:g.6991_6996del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.198+140_198+145del MANE Select	ENSP00000353735.2:n.198+140_198+145del
ENST00000680198.1:c.198+140_198+145del	ENSP00000505143.1:n.198+140_198+145del
ENST00000681750.1:c.-45+140_-45+145del	ENSP00000506413.1:n.-45+140_-45+145del
ENST00000360538.6:c.198+140_198+145del	ENSP00000353735.2:n.198+140_198+145del
ENST00000379858.1:c.3+1800_3+1805del	ENSP00000369187.1:n.3+1800_3+1805del
NM_001195622.1:c.3+1800_3+1805del	NP_001182551.1:n.3+1800_3+1805del
NM_005802.4:c.198+140_198+145del	NP_005793.2:n.198+140_198+145del
NM_005802.5:c.198+140_198+145del MANE Select	NP_005793.2:n.198+140_198+145del
NM_001195622.2:c.3+1800_3+1805del	NP_001182551.1:n.3+1800_3+1805del