Canonical Allele Identifier: CA10585914

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 252380
• ClinVar RCV Id: RCV000239092
• dbSNP Id: rs879255282
• MyVariant Identifiers: chr17:g.41228597_41228600dupAGGG (hg19) ; chr17:g.41228596_41228597insAGGG (hg19) ; chr17:g.43076580_43076583dupAGGG (hg38) ; chr17:g.43076579_43076580insAGGG (hg38)
• PubMed: PMID:26295337

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076580_43076583dup , CM000679.2:g.43076580_43076583dup	GRCh38
NC_000017.10:g.41228597_41228600dup , CM000679.1:g.41228597_41228600dup	GRCh37
NC_000017.9:g.38482123_38482126dup	NCBI36
NG_005905.2:g.141401_141404dup , LRG_292:g.141401_141404dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4386_4389dup	ENSP00000417241.2:p.Ile1464ProfsTer12
ENST00000470026.6:c.4389_4392dup	ENSP00000419274.2:p.Ile1465ProfsTer12
ENST00000473961.6:c.4263_4266dup	ENSP00000420201.2:p.Ile1423ProfsTer12
ENST00000476777.6:c.4383_4386dup	ENSP00000417554.2:p.Ile1463ProfsTer12
ENST00000477152.6:c.4311_4314dup	ENSP00000419988.2:p.Ile1439ProfsTer12
ENST00000478531.6:c.1077_1080dup	ENSP00000420412.2:p.Ile361ProfsTer12
ENST00000489037.2:c.4311_4314dup	ENSP00000420781.2:p.Ile1439ProfsTer12
ENST00000493919.6:c.939_942dup	ENSP00000418819.2:p.Ile315ProfsTer12
ENST00000494123.6:c.4389_4392dup	ENSP00000419103.2:p.Ile1465ProfsTer12
ENST00000497488.2:c.3501_3504dup	ENSP00000418986.2:p.Ile1169ProfsTer12
ENST00000618469.2:c.4389_4392dup	ENSP00000478114.2:p.Ile1465ProfsTer12
ENST00000634433.2:c.4266_4269dup	ENSP00000489431.2:p.Ile1424ProfsTer12
ENST00000644379.2:c.4455_4458dup	ENSP00000496570.2:p.Ile1487ProfsTer12
ENST00000644555.2:c.939_942dup	ENSP00000494614.2:p.Ile315ProfsTer12
ENST00000652672.2:c.4248_4251dup	ENSP00000498906.2:p.Ile1418ProfsTer12
ENST00000484087.6:c.951_954dup	ENSP00000419481.2:p.Ile319ProfsTer12
ENST00000700182.1:c.996_999dup	ENSP00000514849.1:p.Ile334ProfsTer12
ENST00000357654.9:c.4389_4392dup MANE Select	ENSP00000350283.3:p.Ile1465ProfsTer12
ENST00000471181.7:c.4452_4455dup	ENSP00000418960.2:p.Ile1486ProfsTer12
ENST00000644379.1:c.776_779dup
ENST00000352993.7:c.963_966dup	ENSP00000312236.5:p.Ile323ProfsTer12
ENST00000357654.7:c.4389_4392dup	ENSP00000350283.3:p.Ile1465ProfsTer12
ENST00000461221.5:c.*4172_*4175dup	ENSP00000418548.1:n.*4172_*4175dup
ENST00000461574.1:c.680_683dup
ENST00000468300.5:c.1077_1080dup	ENSP00000417148.1:p.Ile361ProfsTer12
ENST00000471181.6:c.4452_4455dup	ENSP00000418960.2:p.Ile1486ProfsTer12
ENST00000478531.5:c.1077_1080dup	ENSP00000420412.1:p.Ile361ProfsTer12
ENST00000484087.5:c.702_705dup	ENSP00000419481.1:p.Ile236ProfsTer12
ENST00000487825.5:c.705_708dup	ENSP00000418212.1:p.Ile237ProfsTer12
ENST00000491747.6:c.1077_1080dup	ENSP00000420705.2:p.Ile361ProfsTer12
ENST00000493795.5:c.4248_4251dup	ENSP00000418775.1:p.Ile1418ProfsTer12
ENST00000493919.5:c.939_942dup	ENSP00000418819.1:p.Ile315ProfsTer12
ENST00000586385.5:c.5-12632_5-12629dup	ENSP00000465818.1:n.5-12632_5-12629dup
ENST00000591534.5:c.-43-2062_-43-2059dup	ENSP00000467329.1:n.-43-2062_-43-2059dup
ENST00000591849.5:c.-98-26393_-98-26390dup	ENSP00000465347.1:n.-98-26393_-98-26390du...
ENST00000621897.1:n.280_283dup
NM_007294.3:c.4389_4392dup , LRG_292t1:c.4389_4392dup	NP_009225.1:p.Ile1465ProfsTer12
NM_007297.3:c.4248_4251dup	NP_009228.2:p.Ile1418ProfsTer12
NM_007298.3:c.1077_1080dup	NP_009229.2:p.Ile361ProfsTer12
NM_007299.3:c.1077_1080dup	NP_009230.2:p.Ile361ProfsTer12
NM_007300.3:c.4452_4455dup	NP_009231.2:p.Ile1486ProfsTer12
NR_027676.1:n.4525_4528dup
NM_007294.4:c.4389_4392dup MANE Select	NP_009225.1:p.Ile1465ProfsTer12
NM_007297.4:c.4248_4251dup	NP_009228.2:p.Ile1418ProfsTer12
NM_007299.4:c.1077_1080dup	NP_009230.2:p.Ile361ProfsTer12
NM_007300.4:c.4452_4455dup	NP_009231.2:p.Ile1486ProfsTer12
NR_027676.2:n.4566_4569dup