Canonical Allele Identifier: CA2739269183

Gene: TOPORS

Linked Data

• ClinVar Variation Id: 2830327
• ClinVar RCV Id: RCV003678702

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32550858_32550859delinsAA , CM000671.2:g.32550858_32550859delinsAA	GRCh38
NC_000009.11:g.32550856_32550857delinsAA , CM000671.1:g.32550856_32550857delinsAA	GRCh37
NC_000009.10:g.32540856_32540857delinsAA	NCBI36
NG_017050.1:g.6766_6767delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.113_114delinsTT MANE Select	ENSP00000353735.2:p.Gly38Val
ENST00000680198.1:c.113_114delinsTT	ENSP00000505143.1:p.Gly38Val
ENST00000681750.1:c.-130_-129delinsTT	ENSP00000506413.1:n.-130_-129delinsTT
ENST00000360538.6:c.113_114delinsTT	ENSP00000353735.2:p.Gly38Val
ENST00000379858.1:c.3+1575_3+1576delinsTT	ENSP00000369187.1:n.3+1575_3+1576delinsTT
NM_001195622.1:c.3+1575_3+1576delinsTT	NP_001182551.1:n.3+1575_3+1576delinsTT
NM_005802.4:c.113_114delinsTT	NP_005793.2:p.Gly38Val
NM_005802.5:c.113_114delinsTT MANE Select	NP_005793.2:p.Gly38Val
NM_001195622.2:c.3+1575_3+1576delinsTT	NP_001182551.1:n.3+1575_3+1576delinsTT