Canonical Allele Identifier: CA10589768

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266346
• ClinVar RCV Id: RCV000256950
• dbSNP Id: rs1555588016
• MyVariant Identifiers: chr17:g.41244260_41244305dup46 (hg19) ; chr17:g.41244259_41244260insTTGTTTATAGACCTCAGGTTGCAAAACCCCTAATCTAAGCATAGCA (hg19) ; chr17:g.43092243_43092288dup46 (hg38) ; chr17:g.43092242_43092243insTTGTTTATAGACCTCAGGTTGCAAAACCCCTAATCTAAGCATAGCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092245_43092290dup , CM000679.2:g.43092245_43092290dup	GRCh38
NC_000017.10:g.41244262_41244307dup , CM000679.1:g.41244262_41244307dup	GRCh37
NC_000017.9:g.38497788_38497833dup	NCBI36
NG_005905.2:g.125696_125741dup , LRG_292:g.125696_125741dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.3307_3352dup
ENST00000461574.2:c.3243_3288dup	ENSP00000417241.2:p.Ser1097CysfsTer4
ENST00000470026.6:c.3243_3288dup	ENSP00000419274.2:p.Ser1097CysfsTer4
ENST00000473961.6:c.3117_3162dup	ENSP00000420201.2:p.Ser1055CysfsTer4
ENST00000476777.6:c.3240_3285dup	ENSP00000417554.2:p.Ser1096CysfsTer4
ENST00000477152.6:c.3165_3210dup	ENSP00000419988.2:p.Ser1071CysfsTer4
ENST00000478531.6:c.785-1256_785-1211dup	ENSP00000420412.2:n.785-1256_785-1211dup
ENST00000489037.2:c.3165_3210dup	ENSP00000420781.2:p.Ser1071CysfsTer4
ENST00000493919.6:c.647-1256_647-1211dup	ENSP00000418819.2:n.647-1256_647-1211dup
ENST00000494123.6:c.3243_3288dup	ENSP00000419103.2:p.Ser1097CysfsTer4
ENST00000497488.2:c.2355_2400dup	ENSP00000418986.2:p.Ser801CysfsTer4
ENST00000618469.2:c.3243_3288dup	ENSP00000478114.2:p.Ser1097CysfsTer4
ENST00000634433.2:c.3120_3165dup	ENSP00000489431.2:p.Ser1056CysfsTer4
ENST00000644379.2:c.3243_3288dup	ENSP00000496570.2:p.Ser1097CysfsTer4
ENST00000644555.2:c.647-1256_647-1211dup	ENSP00000494614.2:n.647-1256_647-1211dup
ENST00000652672.2:c.3102_3147dup	ENSP00000498906.2:p.Ser1050CysfsTer4
ENST00000484087.6:c.665-1256_665-1211dup	ENSP00000419481.2:n.665-1256_665-1211dup
ENST00000700182.1:c.707-1256_707-1211dup	ENSP00000514849.1:n.707-1256_707-1211dup
ENST00000357654.9:c.3243_3288dup MANE Select	ENSP00000350283.3:p.Ser1097CysfsTer4
ENST00000471181.7:c.3243_3288dup	ENSP00000418960.2:p.Ser1097CysfsTer4
ENST00000352993.7:c.671-1256_671-1211dup	ENSP00000312236.5:n.671-1256_671-1211dup
ENST00000354071.7:c.3243_3288dup	ENSP00000326002.7:p.Ser1097CysfsTer4
ENST00000357654.7:c.3243_3288dup	ENSP00000350283.3:p.Ser1097CysfsTer4
ENST00000461221.5:c.*3026_*3071dup	ENSP00000418548.1:n.*3026_*3071dup
ENST00000468300.5:c.788-1256_788-1211dup	ENSP00000417148.1:n.788-1256_788-1211dup
ENST00000471181.6:c.3243_3288dup	ENSP00000418960.2:p.Ser1097CysfsTer4
ENST00000478531.5:c.785-1256_785-1211dup	ENSP00000420412.1:n.785-1256_785-1211dup
ENST00000484087.5:c.410-1256_410-1211dup	ENSP00000419481.1:n.410-1256_410-1211dup
ENST00000487825.5:c.413-1256_413-1211dup	ENSP00000418212.1:n.413-1256_413-1211dup
ENST00000491747.6:c.788-1256_788-1211dup	ENSP00000420705.2:n.788-1256_788-1211dup
ENST00000493795.5:c.3102_3147dup	ENSP00000418775.1:p.Ser1050CysfsTer4
ENST00000493919.5:c.647-1256_647-1211dup	ENSP00000418819.1:n.647-1256_647-1211dup
ENST00000586385.5:c.5-28337_5-28292dup	ENSP00000465818.1:n.5-28337_5-28292dup
ENST00000591534.5:c.-43-17767_-43-17722dup	ENSP00000467329.1:n.-43-17767_-43-17722du...
ENST00000591849.5:c.-99+32983_-99+33028dup	ENSP00000465347.1:n.-99+32983_-99+33028du...
NM_007294.3:c.3243_3288dup , LRG_292t1:c.3243_3288dup	NP_009225.1:p.Ser1097CysfsTer4
NM_007297.3:c.3102_3147dup	NP_009228.2:p.Ser1050CysfsTer4
NM_007298.3:c.788-1256_788-1211dup	NP_009229.2:n.788-1256_788-1211dup
NM_007299.3:c.788-1256_788-1211dup	NP_009230.2:n.788-1256_788-1211dup
NM_007300.3:c.3243_3288dup	NP_009231.2:p.Ser1097CysfsTer4
NR_027676.1:n.3379_3424dup
NM_007294.4:c.3243_3288dup MANE Select	NP_009225.1:p.Ser1097CysfsTer4
NM_007297.4:c.3102_3147dup	NP_009228.2:p.Ser1050CysfsTer4
NM_007299.4:c.788-1256_788-1211dup	NP_009230.2:n.788-1256_788-1211dup
NM_007300.4:c.3243_3288dup	NP_009231.2:p.Ser1097CysfsTer4
NR_027676.2:n.3420_3465dup