Canonical Allele Identifier: CA2697559880

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2700481
• ClinVar RCV Id: RCV003530461

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092358_43092378dup , CM000679.2:g.43092358_43092378dup	GRCh38
NC_000017.10:g.41244375_41244395dup , CM000679.1:g.41244375_41244395dup	GRCh37
NC_000017.9:g.38497901_38497921dup	NCBI36
NG_005905.2:g.125613_125633dup , LRG_292:g.125613_125633dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3224_3244dup
ENST00000461574.2:c.3160_3180dup	ENSP00000417241.2:p.Glu1060_Ile1061insValGlySerSerIleAsnGlu
ENST00000470026.6:c.3160_3180dup	ENSP00000419274.2:p.Glu1060_Ile1061insValGlySerSerIleAsnGlu
ENST00000473961.6:c.3034_3054dup	ENSP00000420201.2:p.Glu1018_Ile1019insValGlySerSerIleAsnGlu
ENST00000476777.6:c.3157_3177dup	ENSP00000417554.2:p.Glu1059_Ile1060insValGlySerSerIleAsnGlu
ENST00000477152.6:c.3082_3102dup	ENSP00000419988.2:p.Glu1034_Ile1035insValGlySerSerIleAsnGlu
ENST00000478531.6:c.785-1339_785-1319dup	ENSP00000420412.2:n.785-1339_785-1319dup
ENST00000489037.2:c.3082_3102dup	ENSP00000420781.2:p.Glu1034_Ile1035insValGlySerSerIleAsnGlu
ENST00000493919.6:c.647-1339_647-1319dup	ENSP00000418819.2:n.647-1339_647-1319dup
ENST00000494123.6:c.3160_3180dup	ENSP00000419103.2:p.Glu1060_Ile1061insValGlySerSerIleAsnGlu
ENST00000497488.2:c.2272_2292dup	ENSP00000418986.2:p.Glu764_Ile765insValGlySerSerIleAsnGlu
ENST00000618469.2:c.3160_3180dup	ENSP00000478114.2:p.Glu1060_Ile1061insValGlySerSerIleAsnGlu
ENST00000634433.2:c.3037_3057dup	ENSP00000489431.2:p.Glu1019_Ile1020insValGlySerSerIleAsnGlu
ENST00000644379.2:c.3160_3180dup	ENSP00000496570.2:p.Glu1060_Ile1061insValGlySerSerIleAsnGlu
ENST00000644555.2:c.647-1339_647-1319dup	ENSP00000494614.2:n.647-1339_647-1319dup
ENST00000652672.2:c.3019_3039dup	ENSP00000498906.2:p.Glu1013_Ile1014insValGlySerSerIleAsnGlu
ENST00000484087.6:c.665-1339_665-1319dup	ENSP00000419481.2:n.665-1339_665-1319dup
ENST00000700182.1:c.707-1339_707-1319dup	ENSP00000514849.1:n.707-1339_707-1319dup
ENST00000357654.9:c.3160_3180dup MANE Select	ENSP00000350283.3:p.Glu1060_Ile1061insValGlySerSerIleAsnGlu
ENST00000471181.7:c.3160_3180dup	ENSP00000418960.2:p.Glu1060_Ile1061insValGlySerSerIleAsnGlu
ENST00000352993.7:c.671-1339_671-1319dup	ENSP00000312236.5:n.671-1339_671-1319dup
ENST00000354071.7:c.3160_3180dup	ENSP00000326002.7:p.Glu1060_Ile1061insValGlySerSerIleAsnGlu
ENST00000357654.7:c.3160_3180dup	ENSP00000350283.3:p.Glu1060_Ile1061insValGlySerSerIleAsnGlu
ENST00000461221.5:c.*2943_*2963dup	ENSP00000418548.1:n.*2943_*2963dup
ENST00000468300.5:c.788-1339_788-1319dup	ENSP00000417148.1:n.788-1339_788-1319dup
ENST00000471181.6:c.3160_3180dup	ENSP00000418960.2:p.Glu1060_Ile1061insValGlySerSerIleAsnGlu
ENST00000478531.5:c.785-1339_785-1319dup	ENSP00000420412.1:n.785-1339_785-1319dup
ENST00000484087.5:c.410-1339_410-1319dup	ENSP00000419481.1:n.410-1339_410-1319dup
ENST00000487825.5:c.413-1339_413-1319dup	ENSP00000418212.1:n.413-1339_413-1319dup
ENST00000491747.6:c.788-1339_788-1319dup	ENSP00000420705.2:n.788-1339_788-1319dup
ENST00000493795.5:c.3019_3039dup	ENSP00000418775.1:p.Glu1013_Ile1014insValGlySerSerIleAsnGlu
ENST00000493919.5:c.647-1339_647-1319dup	ENSP00000418819.1:n.647-1339_647-1319dup
ENST00000586385.5:c.5-28420_5-28400dup	ENSP00000465818.1:n.5-28420_5-28400dup
ENST00000591534.5:c.-43-17850_-43-17830dup	ENSP00000467329.1:n.-43-17850_-43-17830dup
ENST00000591849.5:c.-99+32900_-99+32920dup	ENSP00000465347.1:n.-99+32900_-99+32920dup
NM_007294.3:c.3160_3180dup , LRG_292t1:c.3160_3180dup	NP_009225.1:p.Glu1060_Ile1061insValGlySerSerIleAsnGlu
NM_007297.3:c.3019_3039dup	NP_009228.2:p.Glu1013_Ile1014insValGlySerSerIleAsnGlu
NM_007298.3:c.788-1339_788-1319dup	NP_009229.2:n.788-1339_788-1319dup
NM_007299.3:c.788-1339_788-1319dup	NP_009230.2:n.788-1339_788-1319dup
NM_007300.3:c.3160_3180dup	NP_009231.2:p.Glu1060_Ile1061insValGlySerSerIleAsnGlu
NR_027676.1:n.3296_3316dup
NM_007294.4:c.3160_3180dup MANE Select	NP_009225.1:p.Glu1060_Ile1061insValGlySerSerIleAsnGlu
NM_007297.4:c.3019_3039dup	NP_009228.2:p.Glu1013_Ile1014insValGlySerSerIleAsnGlu
NM_007299.4:c.788-1339_788-1319dup	NP_009230.2:n.788-1339_788-1319dup
NM_007300.4:c.3160_3180dup	NP_009231.2:p.Glu1060_Ile1061insValGlySerSerIleAsnGlu
NR_027676.2:n.3337_3357dup