Canonical Allele Identifier: CA001304

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 54417
• ClinVar RCV Id: RCV000031018 ; RCV000047661 ; RCV000130225 ; RCV000203641 ; RCV000677810 ; RCV000735521
• dbSNP Id: rs80357522
• ExAC: 17:41245586 C / CT
• gnomAD v2: 17-41245586-C-CT
• gnomAD v4: 17-43093569-C-CT
• COSMIC: COSM23947
• MyVariant Identifiers: chr17:g.41245587dupT (hg19) ; chr17:g.41245587_41245588insT (hg19) ; chr17:g.41245586_41245587insT (hg19) ; chr17:g.43093570dupT (hg38) ; chr17:g.43093569_43093570insT (hg38)
• PubMed: PMID:7837387 ; PMID:8807330 ; PMID:12181777 ; PMID:17688236 ; PMID:18340530 ; PMID:21324516 ; PMID:21702907 ; PMID:21751003 ; PMID:22516946 ; PMID:23569316 ; PMID:24728189 ; PMID:26295337

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093577dup , CM000679.2:g.43093577dup	GRCh38
NC_000017.10:g.41245594dup , CM000679.1:g.41245594dup	GRCh37
NC_000017.9:g.38499120dup	NCBI36
NG_005905.2:g.124414dup , LRG_292:g.124414dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.2025dup
ENST00000461574.2:c.1961dup	ENSP00000417241.2:p.Tyr655ValfsTer18
ENST00000470026.6:c.1961dup	ENSP00000419274.2:p.Tyr655ValfsTer18
ENST00000473961.6:c.1835dup	ENSP00000420201.2:p.Tyr613ValfsTer18
ENST00000476777.6:c.1958dup	ENSP00000417554.2:p.Tyr654ValfsTer18
ENST00000477152.6:c.1883dup	ENSP00000419988.2:p.Tyr629ValfsTer18
ENST00000478531.6:c.784+1174dup	ENSP00000420412.2:n.784+1174dup
ENST00000489037.2:c.1883dup	ENSP00000420781.2:p.Tyr629ValfsTer18
ENST00000493919.6:c.646+1174dup	ENSP00000418819.2:n.646+1174dup
ENST00000494123.6:c.1961dup	ENSP00000419103.2:p.Tyr655ValfsTer18
ENST00000497488.2:c.1073dup	ENSP00000418986.2:p.Tyr359ValfsTer18
ENST00000618469.2:c.1961dup	ENSP00000478114.2:p.Tyr655ValfsTer18
ENST00000634433.2:c.1838dup	ENSP00000489431.2:p.Tyr614ValfsTer18
ENST00000644379.2:c.1961dup	ENSP00000496570.2:p.Tyr655ValfsTer18
ENST00000644555.2:c.646+1174dup	ENSP00000494614.2:n.646+1174dup
ENST00000652672.2:c.1820dup	ENSP00000498906.2:p.Tyr608ValfsTer18
ENST00000484087.6:c.664+1174dup	ENSP00000419481.2:n.664+1174dup
ENST00000700182.1:c.706+1174dup	ENSP00000514849.1:n.706+1174dup
ENST00000357654.9:c.1961dup MANE Select	ENSP00000350283.3:p.Tyr655ValfsTer18
ENST00000471181.7:c.1961dup	ENSP00000418960.2:p.Tyr655ValfsTer18
ENST00000352993.7:c.670+2276dup	ENSP00000312236.5:n.670+2276dup
ENST00000354071.7:c.1961dup	ENSP00000326002.7:p.Tyr655ValfsTer18
ENST00000357654.7:c.1961dup	ENSP00000350283.3:p.Tyr655ValfsTer18
ENST00000461221.5:c.*1744dup	ENSP00000418548.1:n.*1744dup
ENST00000468300.5:c.787+1174dup	ENSP00000417148.1:n.787+1174dup
ENST00000471181.6:c.1961dup	ENSP00000418960.2:p.Tyr655ValfsTer18
ENST00000478531.5:c.784+1174dup	ENSP00000420412.1:n.784+1174dup
ENST00000484087.5:c.409+1174dup	ENSP00000419481.1:n.409+1174dup
ENST00000487825.5:c.412+1174dup	ENSP00000418212.1:n.412+1174dup
ENST00000491747.6:c.787+1174dup	ENSP00000420705.2:n.787+1174dup
ENST00000493795.5:c.1820dup	ENSP00000418775.1:p.Tyr608ValfsTer18
ENST00000493919.5:c.646+1174dup	ENSP00000418819.1:n.646+1174dup
ENST00000586385.5:c.5-29619dup	ENSP00000465818.1:n.5-29619dup
ENST00000591534.5:c.-43-19049dup	ENSP00000467329.1:n.-43-19049dup
ENST00000591849.5:c.-99+31701dup	ENSP00000465347.1:n.-99+31701dup
ENST00000634433.1:c.1838dup	ENSP00000489431.1:p.Tyr614ValfsTer18
NM_007294.3:c.1961dup , LRG_292t1:c.1961dup	NP_009225.1:p.Tyr655ValfsTer18
NM_007297.3:c.1820dup	NP_009228.2:p.Tyr608ValfsTer18
NM_007298.3:c.787+1174dup	NP_009229.2:n.787+1174dup
NM_007299.3:c.787+1174dup	NP_009230.2:n.787+1174dup
NM_007300.3:c.1961dup	NP_009231.2:p.Tyr655ValfsTer18
NR_027676.1:n.2097dup
NM_007294.4:c.1961dup MANE Select	NP_009225.1:p.Tyr655ValfsTer18
NM_007297.4:c.1820dup	NP_009228.2:p.Tyr608ValfsTer18
NM_007299.4:c.787+1174dup	NP_009230.2:n.787+1174dup
NM_007300.4:c.1961dup	NP_009231.2:p.Tyr655ValfsTer18
NR_027676.2:n.2138dup