Canonical Allele Identifier: CA658824537

Gene: BRCA1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094424_43094425insGA , CM000679.2:g.43094424_43094425insGA	GRCh38
NC_000017.10:g.41246441_41246442insGA , CM000679.1:g.41246441_41246442insGA	GRCh37
NC_000017.9:g.38499967_38499968insGA	NCBI36
NG_005905.2:g.123560_123561insCT , LRG_292:g.123560_123561insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1171_1172insCT
ENST00000461574.2:c.1107_1108insCT	ENSP00000417241.2:p.Val370LeufsTer5
ENST00000470026.6:c.1107_1108insCT	ENSP00000419274.2:p.Val370LeufsTer5
ENST00000473961.6:c.981_982insCT	ENSP00000420201.2:p.Val328LeufsTer5
ENST00000476777.6:c.1104_1105insCT	ENSP00000417554.2:p.Val369LeufsTer5
ENST00000477152.6:c.1029_1030insCT	ENSP00000419988.2:p.Val344LeufsTer5
ENST00000478531.6:c.784+320_784+321insCT	ENSP00000420412.2:n.784+320_784+321insCT
ENST00000489037.2:c.1029_1030insCT	ENSP00000420781.2:p.Val344LeufsTer5
ENST00000493919.6:c.646+320_646+321insCT	ENSP00000418819.2:n.646+320_646+321insCT
ENST00000494123.6:c.1107_1108insCT	ENSP00000419103.2:p.Val370LeufsTer5
ENST00000497488.2:c.219_220insCT	ENSP00000418986.2:p.Val74LeufsTer5
ENST00000618469.2:c.1107_1108insCT	ENSP00000478114.2:p.Val370LeufsTer5
ENST00000634433.2:c.984_985insCT	ENSP00000489431.2:p.Val329LeufsTer5
ENST00000644379.2:c.1107_1108insCT	ENSP00000496570.2:p.Val370LeufsTer5
ENST00000644555.2:c.646+320_646+321insCT	ENSP00000494614.2:n.646+320_646+321insCT
ENST00000652672.2:c.966_967insCT	ENSP00000498906.2:p.Val323LeufsTer5
ENST00000484087.6:c.664+320_664+321insCT	ENSP00000419481.2:n.664+320_664+321insCT
ENST00000700182.1:c.706+320_706+321insCT	ENSP00000514849.1:n.706+320_706+321insCT
ENST00000700183.1:c.*1115_*1116insCT	ENSP00000514850.1:n.*1115_*1116insCT
ENST00000357654.9:c.1107_1108insCT MANE Select	ENSP00000350283.3:p.Val370LeufsTer5
ENST00000471181.7:c.1107_1108insCT	ENSP00000418960.2:p.Val370LeufsTer5
ENST00000652672.1:c.966_967insCT	ENSP00000498906.1:p.Val323LeufsTer5
ENST00000352993.7:c.670+1422_670+1423insCT	ENSP00000312236.5:n.670+1422_670+1423insCT
ENST00000354071.7:c.1107_1108insCT	ENSP00000326002.7:p.Val370LeufsTer5
ENST00000357654.7:c.1107_1108insCT	ENSP00000350283.3:p.Val370LeufsTer5
ENST00000412061.3:c.458_459insCT
ENST00000461221.5:c.*890_*891insCT	ENSP00000418548.1:n.*890_*891insCT
ENST00000468300.5:c.787+320_787+321insCT	ENSP00000417148.1:n.787+320_787+321insCT
ENST00000470026.5:c.1107_1108insCT	ENSP00000419274.1:p.Val370LeufsTer5
ENST00000471181.6:c.1107_1108insCT	ENSP00000418960.2:p.Val370LeufsTer5
ENST00000473961.5:c.704_705insCT
ENST00000477152.5:c.1029_1030insCT	ENSP00000419988.1:p.Val344LeufsTer5
ENST00000478531.5:c.784+320_784+321insCT	ENSP00000420412.1:n.784+320_784+321insCT
ENST00000484087.5:c.409+320_409+321insCT	ENSP00000419481.1:n.409+320_409+321insCT
ENST00000487825.5:c.412+320_412+321insCT	ENSP00000418212.1:n.412+320_412+321insCT
ENST00000491747.6:c.787+320_787+321insCT	ENSP00000420705.2:n.787+320_787+321insCT
ENST00000492859.5:c.*1043_*1044insCT	ENSP00000420253.1:n.*1043_*1044insCT
ENST00000493795.5:c.966_967insCT	ENSP00000418775.1:p.Val323LeufsTer5
ENST00000493919.5:c.646+320_646+321insCT	ENSP00000418819.1:n.646+320_646+321insCT
ENST00000494123.5:c.1107_1108insCT	ENSP00000419103.1:p.Val370LeufsTer5
ENST00000497488.1:c.219_220insCT	ENSP00000418986.1:p.Val74LeufsTer5
ENST00000586385.5:c.5-30473_5-30472insCT	ENSP00000465818.1:n.5-30473_5-30472insCT
ENST00000591534.5:c.-43-19903_-43-19902insCT	ENSP00000467329.1:n.-43-19903_-43-19902insCT
ENST00000591849.5:c.-99+30847_-99+30848insCT	ENSP00000465347.1:n.-99+30847_-99+30848insCT
ENST00000634433.1:c.984_985insCT	ENSP00000489431.1:p.Val329LeufsTer5
NM_007294.3:c.1107_1108insCT , LRG_292t1:c.1107_1108insCT	NP_009225.1:p.Val370LeufsTer5
NM_007297.3:c.966_967insCT	NP_009228.2:p.Val323LeufsTer5
NM_007298.3:c.787+320_787+321insCT	NP_009229.2:n.787+320_787+321insCT
NM_007299.3:c.787+320_787+321insCT	NP_009230.2:n.787+320_787+321insCT
NM_007300.3:c.1107_1108insCT	NP_009231.2:p.Val370LeufsTer5
NR_027676.1:n.1243_1244insCT
NM_007294.4:c.1107_1108insCT MANE Select	NP_009225.1:p.Val370LeufsTer5
NM_007297.4:c.966_967insCT	NP_009228.2:p.Val323LeufsTer5
NM_007299.4:c.787+320_787+321insCT	NP_009230.2:n.787+320_787+321insCT
NM_007300.4:c.1107_1108insCT	NP_009231.2:p.Val370LeufsTer5
NR_027676.2:n.1284_1285insCT