Canonical Allele Identifier: CA1844697643

Gene: TOPORS

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32550783_32550793delinsTGCCGGCGCAG , CM000671.2:g.32550783_32550793delinsTGCCGGCGCAG	GRCh38
NC_000009.11:g.32550781_32550791delinsTGCCGGCGCAG , CM000671.1:g.32550781_32550791delinsTGCCGGCGCAG	GRCh37
NC_000009.10:g.32540781_32540791delinsTGCCGGCGCAG	NCBI36
NG_017050.1:g.6832_6842delinsCTGCGCCGGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.179_189delinsCTGCGCCGGCA MANE Select	ENSP00000353735.2:p.Pro60=
ENST00000680198.1:c.179_189delinsCTGCGCCGGCA	ENSP00000505143.1:p.Pro60=
ENST00000681750.1:c.-64_-54delinsCTGCGCCGGCA	ENSP00000506413.1:n.-64_-54delinsCTGCGCCGGCA
ENST00000360538.6:c.179_189delinsCTGCGCCGGCA	ENSP00000353735.2:p.Pro60=
ENST00000379858.1:c.3+1641_3+1651delinsCTGCGCCGGCA	ENSP00000369187.1:n.3+1641_3+1651delinsCTGCGCCGGCA
NM_001195622.1:c.3+1641_3+1651delinsCTGCGCCGGCA	NP_001182551.1:n.3+1641_3+1651delinsCTGCGCCGGCA
NM_005802.4:c.179_189delinsCTGCGCCGGCA	NP_005793.2:p.Pro60=
NM_005802.5:c.179_189delinsCTGCGCCGGCA MANE Select	NP_005793.2:p.Pro60=
NM_001195622.2:c.3+1641_3+1651delinsCTGCGCCGGCA	NP_001182551.1:n.3+1641_3+1651delinsCTGCGCCGGCA