Canonical Allele Identifier: CA2689683515

Gene: TOPORS

Linked Data

• gnomAD v4: 9-32550912-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32550917del , CM000671.2:g.32550917del	GRCh38
NC_000009.11:g.32550915del , CM000671.1:g.32550915del	GRCh37
NC_000009.10:g.32540915del	NCBI36
NG_017050.1:g.6712del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.59del MANE Select	ENSP00000353735.2:p.Pro20ArgfsTer?
ENST00000680198.1:c.59del	ENSP00000505143.1:p.Pro20ArgfsTer?
ENST00000681750.1:c.-184del	ENSP00000506413.1:n.-184del
ENST00000360538.6:c.59del	ENSP00000353735.2:p.Pro20ArgfsTer?
ENST00000379858.1:c.3+1521del	ENSP00000369187.1:n.3+1521del
NM_001195622.1:c.3+1521del	NP_001182551.1:n.3+1521del
NM_005802.4:c.59del	NP_005793.2:p.Pro20ArgfsTer?
NM_005802.5:c.59del MANE Select	NP_005793.2:p.Pro20ArgfsTer?
NM_001195622.2:c.3+1521del	NP_001182551.1:n.3+1521del