Canonical Allele Identifier: CA10589960

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266143
• ClinVar RCV Id: RCV000256971
• dbSNP Id: rs886039932
• MyVariant Identifiers: chr17:g.41246338_41246339del (hg19) ; chr17:g.43094321_43094322del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094321_43094322del , CM000679.2:g.43094321_43094322del	GRCh38
NC_000017.10:g.41246338_41246339del , CM000679.1:g.41246338_41246339del	GRCh37
NC_000017.9:g.38499864_38499865del	NCBI36
NG_005905.2:g.123662_123663del , LRG_292:g.123662_123663del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1273_1274del
ENST00000461574.2:c.1209_1210del	ENSP00000417241.2:p.Glu404IlefsTer7
ENST00000470026.6:c.1209_1210del	ENSP00000419274.2:p.Glu404IlefsTer7
ENST00000473961.6:c.1083_1084del	ENSP00000420201.2:p.Glu362IlefsTer7
ENST00000476777.6:c.1206_1207del	ENSP00000417554.2:p.Glu403IlefsTer7
ENST00000477152.6:c.1131_1132del	ENSP00000419988.2:p.Glu378IlefsTer7
ENST00000478531.6:c.784+422_784+423del	ENSP00000420412.2:n.784+422_784+423del
ENST00000489037.2:c.1131_1132del	ENSP00000420781.2:p.Glu378IlefsTer7
ENST00000493919.6:c.646+422_646+423del	ENSP00000418819.2:n.646+422_646+423del
ENST00000494123.6:c.1209_1210del	ENSP00000419103.2:p.Glu404IlefsTer7
ENST00000497488.2:c.321_322del	ENSP00000418986.2:p.Glu108IlefsTer7
ENST00000618469.2:c.1209_1210del	ENSP00000478114.2:p.Glu404IlefsTer7
ENST00000634433.2:c.1086_1087del	ENSP00000489431.2:p.Glu363IlefsTer7
ENST00000644379.2:c.1209_1210del	ENSP00000496570.2:p.Glu404IlefsTer7
ENST00000644555.2:c.646+422_646+423del	ENSP00000494614.2:n.646+422_646+423del
ENST00000652672.2:c.1068_1069del	ENSP00000498906.2:p.Glu357IlefsTer7
ENST00000484087.6:c.664+422_664+423del	ENSP00000419481.2:n.664+422_664+423del
ENST00000700182.1:c.706+422_706+423del	ENSP00000514849.1:n.706+422_706+423del
ENST00000700183.1:c.*1217_*1218del	ENSP00000514850.1:n.*1217_*1218del
ENST00000357654.9:c.1209_1210del MANE Select	ENSP00000350283.3:p.Glu404IlefsTer7
ENST00000471181.7:c.1209_1210del	ENSP00000418960.2:p.Glu404IlefsTer7
ENST00000652672.1:c.1068_1069del	ENSP00000498906.1:p.Glu357IlefsTer7
ENST00000352993.7:c.670+1524_670+1525del	ENSP00000312236.5:n.670+1524_670+1525del
ENST00000354071.7:c.1209_1210del	ENSP00000326002.7:p.Glu404IlefsTer7
ENST00000357654.7:c.1209_1210del	ENSP00000350283.3:p.Glu404IlefsTer7
ENST00000412061.3:c.560_561del
ENST00000461221.5:c.*992_*993del	ENSP00000418548.1:n.*992_*993del
ENST00000468300.5:c.787+422_787+423del	ENSP00000417148.1:n.787+422_787+423del
ENST00000470026.5:c.1209_1210del	ENSP00000419274.1:p.Glu404IlefsTer7
ENST00000471181.6:c.1209_1210del	ENSP00000418960.2:p.Glu404IlefsTer7
ENST00000473961.5:c.806_807del
ENST00000477152.5:c.1131_1132del	ENSP00000419988.1:p.Glu378IlefsTer7
ENST00000478531.5:c.784+422_784+423del	ENSP00000420412.1:n.784+422_784+423del
ENST00000484087.5:c.409+422_409+423del	ENSP00000419481.1:n.409+422_409+423del
ENST00000487825.5:c.412+422_412+423del	ENSP00000418212.1:n.412+422_412+423del
ENST00000491747.6:c.787+422_787+423del	ENSP00000420705.2:n.787+422_787+423del
ENST00000492859.5:c.*1145_*1146del	ENSP00000420253.1:n.*1145_*1146del
ENST00000493795.5:c.1068_1069del	ENSP00000418775.1:p.Glu357IlefsTer7
ENST00000493919.5:c.646+422_646+423del	ENSP00000418819.1:n.646+422_646+423del
ENST00000494123.5:c.1209_1210del	ENSP00000419103.1:p.Glu404IlefsTer7
ENST00000497488.1:c.321_322del	ENSP00000418986.1:p.Glu108IlefsTer7
ENST00000586385.5:c.5-30371_5-30370del	ENSP00000465818.1:n.5-30371_5-30370del
ENST00000591534.5:c.-43-19801_-43-19800del	ENSP00000467329.1:n.-43-19801_-43-19800del
ENST00000591849.5:c.-99+30949_-99+30950del	ENSP00000465347.1:n.-99+30949_-99+30950del
ENST00000634433.1:c.1086_1087del	ENSP00000489431.1:p.Glu363IlefsTer7
NM_007294.3:c.1209_1210del , LRG_292t1:c.1209_1210del	NP_009225.1:p.Glu404IlefsTer7
NM_007297.3:c.1068_1069del	NP_009228.2:p.Glu357IlefsTer7
NM_007298.3:c.787+422_787+423del	NP_009229.2:n.787+422_787+423del
NM_007299.3:c.787+422_787+423del	NP_009230.2:n.787+422_787+423del
NM_007300.3:c.1209_1210del	NP_009231.2:p.Glu404IlefsTer7
NR_027676.1:n.1345_1346del
NM_007294.4:c.1209_1210del MANE Select	NP_009225.1:p.Glu404IlefsTer7
NM_007297.4:c.1068_1069del	NP_009228.2:p.Glu357IlefsTer7
NM_007299.4:c.787+422_787+423del	NP_009230.2:n.787+422_787+423del
NM_007300.4:c.1209_1210del	NP_009231.2:p.Glu404IlefsTer7
NR_027676.2:n.1386_1387del