Canonical Allele Identifier: CA2689683546
Gene: TOPORS HGNC NCBI
SMIM27 HGNC NCBI

Linked Data

gnomAD v4: 9-32551009-CA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.32551010del , CM000671.2:g.32551010del GRCh38
NC_000009.11:g.32551008del , CM000671.1:g.32551008del GRCh37
NC_000009.10:g.32541008del NCBI36
NG_017050.1:g.6615del

Transcript Alleles

HGVS Amino-acid Change
ENST00000360538.7:c.4-42del (TOPORS) MANE Select ENSP00000353735.2:n.4-42del
ENST00000680198.1:c.4-42del ENSP00000505143.1:n.4-42del
ENST00000681750.1:c.-239-42del ENSP00000506413.1:n.-239-42del
ENST00000360538.6:c.4-42del (TOPORS) ENSP00000353735.2:n.4-42del
ENST00000379858.1:c.3+1424del (TOPORS) ENSP00000369187.1:n.3+1424del
NM_001195622.1:c.3+1424del (TOPORS) NP_001182551.1:n.3+1424del
NM_005802.4:c.4-42del (TOPORS) NP_005793.2:n.4-42del
XM_024447368.1:c.17del (SMIM27) XP_024303136.1:p.Gln6ArgfsTer?
NM_005802.5:c.4-42del (TOPORS) MANE Select NP_005793.2:n.4-42del
NM_001195622.2:c.3+1424del (TOPORS) NP_001182551.1:n.3+1424del
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