Canonical Allele Identifier: CA373173932
Gene: TOPORS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.32550972_32550973del , CM000671.2:g.32550972_32550973del GRCh38
NC_000009.11:g.32550970_32550971del , CM000671.1:g.32550970_32550971del GRCh37
NC_000009.10:g.32540970_32540971del NCBI36
NG_017050.1:g.6654_6655del

Transcript Alleles

HGVS Amino-acid Change
ENST00000360538.7:c.4-3_4-2del MANE Select ENSP00000353735.2:n.4-3_4-2del
ENST00000680198.1:c.4-3_4-2del ENSP00000505143.1:n.4-3_4-2del
ENST00000681750.1:c.-239-3_-239-2del ENSP00000506413.1:n.-239-3_-239-2del
ENST00000360538.6:c.4-3_4-2del ENSP00000353735.2:n.4-3_4-2del
ENST00000379858.1:c.3+1463_3+1464del ENSP00000369187.1:n.3+1463_3+1464del
NM_001195622.1:c.3+1463_3+1464del NP_001182551.1:n.3+1463_3+1464del
NM_005802.4:c.4-3_4-2del NP_005793.2:n.4-3_4-2del
NM_005802.5:c.4-3_4-2del MANE Select NP_005793.2:n.4-3_4-2del
NM_001195622.2:c.3+1463_3+1464del NP_001182551.1:n.3+1463_3+1464del