Canonical Allele Identifier: CA10589606

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266539
• ClinVar RCV Id: RCV000257766
• dbSNP Id: rs886040282
• MyVariant Identifiers: chr17:g.41209107dupG (hg19) ; chr17:g.41209106_41209107insG (hg19) ; chr17:g.43057090dupG (hg38) ; chr17:g.43057089_43057090insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057091dup , CM000679.2:g.43057091dup	GRCh38
NC_000017.10:g.41209108dup , CM000679.1:g.41209108dup	GRCh37
NC_000017.9:g.38462634dup	NCBI36
NG_005905.2:g.160894dup , LRG_292:g.160894dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5236dup	ENSP00000417241.2:p.Gln1746ProfsTer?
ENST00000470026.6:c.5239dup	ENSP00000419274.2:p.Gln1747ProfsTer?
ENST00000473961.6:c.5113dup	ENSP00000420201.2:p.Gln1705ProfsTer?
ENST00000476777.6:c.5233dup	ENSP00000417554.2:p.Gln1745ProfsTer?
ENST00000477152.6:c.5161dup	ENSP00000419988.2:p.Gln1721ProfsTer?
ENST00000478531.6:c.1927dup	ENSP00000420412.2:p.Gln643ProfsTer?
ENST00000489037.2:c.5161dup	ENSP00000420781.2:p.Gln1721ProfsTer?
ENST00000493919.6:c.1789dup	ENSP00000418819.2:p.Gln597ProfsTer?
ENST00000494123.6:c.5239dup	ENSP00000419103.2:p.Gln1747ProfsTer?
ENST00000497488.2:c.4351dup	ENSP00000418986.2:p.Gln1451ProfsTer?
ENST00000618469.2:c.5239dup	ENSP00000478114.2:p.Gln1747ProfsTer?
ENST00000634433.2:c.5116dup	ENSP00000489431.2:p.Gln1706ProfsTer?
ENST00000644379.2:c.5305dup	ENSP00000496570.2:p.Gln1769ProfsTer?
ENST00000644555.2:c.1789dup	ENSP00000494614.2:p.Gln597ProfsTer?
ENST00000652672.2:c.5098dup	ENSP00000498906.2:p.Gln1700ProfsTer?
ENST00000484087.6:c.1801dup	ENSP00000419481.2:p.Gln601ProfsTer?
ENST00000357654.9:c.5239dup MANE Select	ENSP00000350283.3:p.Gln1747ProfsTer?
ENST00000471181.7:c.5302dup	ENSP00000418960.2:p.Gln1768ProfsTer?
ENST00000644379.1:c.1626dup
ENST00000352993.7:c.1813dup	ENSP00000312236.5:p.Gln605ProfsTer?
ENST00000357654.7:c.5239dup	ENSP00000350283.3:p.Gln1747ProfsTer?
ENST00000461221.5:c.*5022dup	ENSP00000418548.1:n.*5022dup
ENST00000468300.5:c.1927dup	ENSP00000417148.1:p.Gln643ProfsTer?
ENST00000471181.6:c.5302dup	ENSP00000418960.2:p.Gln1768ProfsTer?
ENST00000491747.6:c.1927dup	ENSP00000420705.2:p.Gln643ProfsTer?
ENST00000493795.5:c.5098dup	ENSP00000418775.1:p.Gln1700ProfsTer?
ENST00000586385.5:c.169dup	ENSP00000465818.1:p.Gln57ProfsTer?
ENST00000591534.5:c.712dup	ENSP00000467329.1:p.Gln238ProfsTer?
ENST00000591849.5:c.-98-6900dup	ENSP00000465347.1:n.-98-6900dup
NM_007294.3:c.5239dup , LRG_292t1:c.5239dup	NP_009225.1:p.Gln1747ProfsTer?
NM_007297.3:c.5098dup	NP_009228.2:p.Gln1700ProfsTer?
NM_007298.3:c.1927dup	NP_009229.2:p.Gln643ProfsTer?
NM_007299.3:c.1927dup	NP_009230.2:p.Gln643ProfsTer?
NM_007300.3:c.5302dup	NP_009231.2:p.Gln1768ProfsTer?
NR_027676.1:n.5375dup
NM_007294.4:c.5239dup MANE Select	NP_009225.1:p.Gln1747ProfsTer?
NM_007297.4:c.5098dup	NP_009228.2:p.Gln1700ProfsTer?
NM_007299.4:c.1927dup	NP_009230.2:p.Gln643ProfsTer?
NM_007300.4:c.5302dup	NP_009231.2:p.Gln1768ProfsTer?
NR_027676.2:n.5416dup