Canonical Allele Identifier: CA1844697879

Gene: TOPORS

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32550847_32550848delinsTG , CM000671.2:g.32550847_32550848delinsTG	GRCh38
NC_000009.11:g.32550845_32550846delinsTG , CM000671.1:g.32550845_32550846delinsTG	GRCh37
NC_000009.10:g.32540845_32540846delinsTG	NCBI36
NG_017050.1:g.6777_6778delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.124_125delinsCA MANE Select	ENSP00000353735.2:p.His42=
ENST00000680198.1:c.124_125delinsCA	ENSP00000505143.1:p.His42=
ENST00000681750.1:c.-119_-118delinsCA	ENSP00000506413.1:n.-119_-118delinsCA
ENST00000360538.6:c.124_125delinsCA	ENSP00000353735.2:p.His42=
ENST00000379858.1:c.3+1586_3+1587delinsCA	ENSP00000369187.1:n.3+1586_3+1587delinsCA
NM_001195622.1:c.3+1586_3+1587delinsCA	NP_001182551.1:n.3+1586_3+1587delinsCA
NM_005802.4:c.124_125delinsCA	NP_005793.2:p.His42=
NM_005802.5:c.124_125delinsCA MANE Select	NP_005793.2:p.His42=
NM_001195622.2:c.3+1586_3+1587delinsCA	NP_001182551.1:n.3+1586_3+1587delinsCA