Canonical Allele Identifier: CA899117023

Gene: TOPBP1

Linked Data

• dbSNP Id: rs1390164848
• gnomAD v3: 3-133600756-ACACATATTT-A
• gnomAD v4: 3-133600756-ACACATATTT-A
• MyVariant Identifiers: chr3:g.133319601_133319609del (hg19) ; chr3:g.133600757_133600765del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.133600757_133600765del , CM000665.2:g.133600757_133600765del	GRCh38
NC_000003.11:g.133319601_133319609del , CM000665.1:g.133319601_133319609del	GRCh37
NC_000003.10:g.134802291_134802299del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000260810.10:c.*485_*493del MANE Select	ENSP00000260810.5:n.*485_*493del
ENST00000642236.1:c.*485_*493del	ENSP00000493612.1:n.*485_*493del
ENST00000260810.9:c.*485_*493del	ENSP00000260810.5:n.*485_*493del
ENST00000503338.5:n.163-2135_163-2127del
ENST00000503464.1:n.163-2135_163-2127del
NM_007027.3:c.*485_*493del	NP_008958.2:n.*485_*493del
XM_005247076.2:c.*485_*493del	XP_005247133.1:n.*485_*493del
NM_001363889.1:c.*485_*493del	NP_001350818.1:n.*485_*493del
XM_017005636.2:c.*485_*493del	XP_016861125.1:n.*485_*493del
XM_017005637.2:c.*485_*493del	XP_016861126.1:n.*485_*493del
XR_001739988.2:n.5082_5090del
NM_001363889.2:c.*485_*493del	NP_001350818.1:n.*485_*493del
NM_007027.4:c.*485_*493del MANE Select	NP_008958.2:n.*485_*493del