Canonical Allele Identifier: CA658824534

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 548221
• ClinVar RCV Id: RCV000661093
• dbSNP Id: rs1555592174
• MyVariant Identifiers: chr17:g.41246336_41246337insAG (hg19) ; chr17:g.43094319_43094320insAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094319_43094320insAG , CM000679.2:g.43094319_43094320insAG	GRCh38
NC_000017.10:g.41246336_41246337insAG , CM000679.1:g.41246336_41246337insAG	GRCh37
NC_000017.9:g.38499862_38499863insAG	NCBI36
NG_005905.2:g.123664_123665insCT , LRG_292:g.123664_123665insCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.1275_1276insCT
ENST00000461574.2:c.1211_1212insCT	ENSP00000417241.2:p.Glu404AspfsTer7
ENST00000470026.6:c.1211_1212insCT	ENSP00000419274.2:p.Glu404AspfsTer7
ENST00000473961.6:c.1085_1086insCT	ENSP00000420201.2:p.Glu362AspfsTer7
ENST00000476777.6:c.1208_1209insCT	ENSP00000417554.2:p.Glu403AspfsTer7
ENST00000477152.6:c.1133_1134insCT	ENSP00000419988.2:p.Glu378AspfsTer7
ENST00000478531.6:c.784+424_784+425insCT	ENSP00000420412.2:n.784+424_784+425insCT
ENST00000489037.2:c.1133_1134insCT	ENSP00000420781.2:p.Glu378AspfsTer7
ENST00000493919.6:c.646+424_646+425insCT	ENSP00000418819.2:n.646+424_646+425insCT
ENST00000494123.6:c.1211_1212insCT	ENSP00000419103.2:p.Glu404AspfsTer7
ENST00000497488.2:c.323_324insCT	ENSP00000418986.2:p.Glu108AspfsTer7
ENST00000618469.2:c.1211_1212insCT	ENSP00000478114.2:p.Glu404AspfsTer7
ENST00000634433.2:c.1088_1089insCT	ENSP00000489431.2:p.Glu363AspfsTer7
ENST00000644379.2:c.1211_1212insCT	ENSP00000496570.2:p.Glu404AspfsTer7
ENST00000644555.2:c.646+424_646+425insCT	ENSP00000494614.2:n.646+424_646+425insCT
ENST00000652672.2:c.1070_1071insCT	ENSP00000498906.2:p.Glu357AspfsTer7
ENST00000484087.6:c.664+424_664+425insCT	ENSP00000419481.2:n.664+424_664+425insCT
ENST00000700182.1:c.706+424_706+425insCT	ENSP00000514849.1:n.706+424_706+425insCT
ENST00000700183.1:c.*1219_*1220insCT	ENSP00000514850.1:n.*1219_*1220insCT
ENST00000357654.9:c.1211_1212insCT MANE Select	ENSP00000350283.3:p.Glu404AspfsTer7
ENST00000471181.7:c.1211_1212insCT	ENSP00000418960.2:p.Glu404AspfsTer7
ENST00000652672.1:c.1070_1071insCT	ENSP00000498906.1:p.Glu357AspfsTer7
ENST00000352993.7:c.670+1526_670+1527insCT	ENSP00000312236.5:n.670+1526_670+1527insC...
ENST00000354071.7:c.1211_1212insCT	ENSP00000326002.7:p.Glu404AspfsTer7
ENST00000357654.7:c.1211_1212insCT	ENSP00000350283.3:p.Glu404AspfsTer7
ENST00000412061.3:c.562_563insCT
ENST00000461221.5:c.*994_*995insCT	ENSP00000418548.1:n.*994_*995insCT
ENST00000468300.5:c.787+424_787+425insCT	ENSP00000417148.1:n.787+424_787+425insCT
ENST00000470026.5:c.1211_1212insCT	ENSP00000419274.1:p.Glu404AspfsTer7
ENST00000471181.6:c.1211_1212insCT	ENSP00000418960.2:p.Glu404AspfsTer7
ENST00000473961.5:c.808_809insCT
ENST00000477152.5:c.1133_1134insCT	ENSP00000419988.1:p.Glu378AspfsTer7
ENST00000478531.5:c.784+424_784+425insCT	ENSP00000420412.1:n.784+424_784+425insCT
ENST00000484087.5:c.409+424_409+425insCT	ENSP00000419481.1:n.409+424_409+425insCT
ENST00000487825.5:c.412+424_412+425insCT	ENSP00000418212.1:n.412+424_412+425insCT
ENST00000491747.6:c.787+424_787+425insCT	ENSP00000420705.2:n.787+424_787+425insCT
ENST00000492859.5:c.*1147_*1148insCT	ENSP00000420253.1:n.*1147_*1148insCT
ENST00000493795.5:c.1070_1071insCT	ENSP00000418775.1:p.Glu357AspfsTer7
ENST00000493919.5:c.646+424_646+425insCT	ENSP00000418819.1:n.646+424_646+425insCT
ENST00000494123.5:c.1211_1212insCT	ENSP00000419103.1:p.Glu404AspfsTer7
ENST00000497488.1:c.323_324insCT	ENSP00000418986.1:p.Glu108AspfsTer7
ENST00000586385.5:c.5-30369_5-30368insCT	ENSP00000465818.1:n.5-30369_5-30368insCT
ENST00000591534.5:c.-43-19799_-43-19798insCT	ENSP00000467329.1:n.-43-19799_-43-19798in...
ENST00000591849.5:c.-99+30951_-99+30952insCT	ENSP00000465347.1:n.-99+30951_-99+30952in...
ENST00000634433.1:c.1088_1089insCT	ENSP00000489431.1:p.Glu363AspfsTer7
NM_007294.3:c.1211_1212insCT , LRG_292t1:c.1211_1212insCT	NP_009225.1:p.Glu404AspfsTer7
NM_007297.3:c.1070_1071insCT	NP_009228.2:p.Glu357AspfsTer7
NM_007298.3:c.787+424_787+425insCT	NP_009229.2:n.787+424_787+425insCT
NM_007299.3:c.787+424_787+425insCT	NP_009230.2:n.787+424_787+425insCT
NM_007300.3:c.1211_1212insCT	NP_009231.2:p.Glu404AspfsTer7
NR_027676.1:n.1347_1348insCT
NM_007294.4:c.1211_1212insCT MANE Select	NP_009225.1:p.Glu404AspfsTer7
NM_007297.4:c.1070_1071insCT	NP_009228.2:p.Glu357AspfsTer7
NM_007299.4:c.787+424_787+425insCT	NP_009230.2:n.787+424_787+425insCT
NM_007300.4:c.1211_1212insCT	NP_009231.2:p.Glu404AspfsTer7
NR_027676.2:n.1388_1389insCT