Canonical Allele Identifier: CA83635427
Gene: TOPBP1 HGNC NCBI

Linked Data

dbSNP Id: rs112843513
MyVariant Identifiers: chr3:g.133319574del (hg19) chr3:g.133600730del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133600730del , CM000665.2:g.133600730del GRCh38
NC_000003.11:g.133319574del , CM000665.1:g.133319574del GRCh37
NC_000003.10:g.134802264del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000260810.10:c.*520del MANE Select ENSP00000260810.5:n.*520del
ENST00000642236.1:c.*520del ENSP00000493612.1:n.*520del
ENST00000260810.9:c.*520del ENSP00000260810.5:n.*520del
ENST00000503338.5:n.163-2100del
ENST00000503464.1:n.163-2100del
NM_007027.3:c.*520del NP_008958.2:n.*520del
XM_005247076.2:c.*520del XP_005247133.1:n.*520del
NM_001363889.1:c.*520del NP_001350818.1:n.*520del
XM_017005636.2:c.*520del XP_016861125.1:n.*520del
XM_017005637.2:c.*520del XP_016861126.1:n.*520del
XR_001739988.2:n.5117del
NM_001363889.2:c.*520del NP_001350818.1:n.*520del
NM_007027.4:c.*520del MANE Select NP_008958.2:n.*520del
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