Canonical Allele Identifier: CA10589650

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266489
• ClinVar RCV Id: RCV000256841
• dbSNP Id: rs886040242
• MyVariant Identifiers: chr17:g.41226355dupT (hg19) ; chr17:g.41226354_41226355insT (hg19) ; chr17:g.43074338dupT (hg38) ; chr17:g.43074337_43074338insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074339dup , CM000679.2:g.43074339dup	GRCh38
NC_000017.10:g.41226356dup , CM000679.1:g.41226356dup	GRCh37
NC_000017.9:g.38479882dup	NCBI36
NG_005905.2:g.143646dup , LRG_292:g.143646dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4665dup	ENSP00000417241.2:p.Asp1556ArgfsTer17
ENST00000470026.6:c.4668dup	ENSP00000419274.2:p.Asp1557ArgfsTer17
ENST00000473961.6:c.4542dup	ENSP00000420201.2:p.Asp1515ArgfsTer17
ENST00000476777.6:c.4662dup	ENSP00000417554.2:p.Asp1555ArgfsTer17
ENST00000477152.6:c.4590dup	ENSP00000419988.2:p.Asp1531ArgfsTer17
ENST00000478531.6:c.1356dup	ENSP00000420412.2:p.Asp453ArgfsTer17
ENST00000489037.2:c.4590dup	ENSP00000420781.2:p.Asp1531ArgfsTer17
ENST00000493919.6:c.1218dup	ENSP00000418819.2:p.Asp407ArgfsTer17
ENST00000494123.6:c.4668dup	ENSP00000419103.2:p.Asp1557ArgfsTer17
ENST00000497488.2:c.3780dup	ENSP00000418986.2:p.Asp1261ArgfsTer17
ENST00000618469.2:c.4668dup	ENSP00000478114.2:p.Asp1557ArgfsTer17
ENST00000634433.2:c.4545dup	ENSP00000489431.2:p.Asp1516ArgfsTer17
ENST00000644379.2:c.4734dup	ENSP00000496570.2:p.Asp1579ArgfsTer17
ENST00000644555.2:c.1218dup	ENSP00000494614.2:p.Asp407ArgfsTer17
ENST00000652672.2:c.4527dup	ENSP00000498906.2:p.Asp1510ArgfsTer17
ENST00000484087.6:c.1230dup	ENSP00000419481.2:p.Asp411ArgfsTer17
ENST00000700182.1:c.1275dup	ENSP00000514849.1:p.Asp426ArgfsTer17
ENST00000357654.9:c.4668dup MANE Select	ENSP00000350283.3:p.Asp1557ArgfsTer17
ENST00000471181.7:c.4731dup	ENSP00000418960.2:p.Asp1578ArgfsTer17
ENST00000644379.1:c.1055dup
ENST00000352993.7:c.1242dup	ENSP00000312236.5:p.Asp415ArgfsTer17
ENST00000357654.7:c.4668dup	ENSP00000350283.3:p.Asp1557ArgfsTer17
ENST00000461221.5:c.*4451dup	ENSP00000418548.1:n.*4451dup
ENST00000468300.5:c.1356dup	ENSP00000417148.1:p.Asp453ArgfsTer17
ENST00000471181.6:c.4731dup	ENSP00000418960.2:p.Asp1578ArgfsTer17
ENST00000478531.5:c.1356dup	ENSP00000420412.1:p.Asp453ArgfsTer17
ENST00000484087.5:c.981dup	ENSP00000419481.1:p.Asp328ArgfsTer17
ENST00000491747.6:c.1356dup	ENSP00000420705.2:p.Asp453ArgfsTer17
ENST00000493795.5:c.4527dup	ENSP00000418775.1:p.Asp1510ArgfsTer17
ENST00000493919.5:c.1218dup	ENSP00000418819.1:p.Asp407ArgfsTer17
ENST00000586385.5:c.5-10387dup	ENSP00000465818.1:n.5-10387dup
ENST00000591534.5:c.141dup	ENSP00000467329.1:p.Asp48ArgfsTer17
ENST00000591849.5:c.-98-24148dup	ENSP00000465347.1:n.-98-24148dup
NM_007294.3:c.4668dup , LRG_292t1:c.4668dup	NP_009225.1:p.Asp1557ArgfsTer17
NM_007297.3:c.4527dup	NP_009228.2:p.Asp1510ArgfsTer17
NM_007298.3:c.1356dup	NP_009229.2:p.Asp453ArgfsTer17
NM_007299.3:c.1356dup	NP_009230.2:p.Asp453ArgfsTer17
NM_007300.3:c.4731dup	NP_009231.2:p.Asp1578ArgfsTer17
NR_027676.1:n.4804dup
NM_007294.4:c.4668dup MANE Select	NP_009225.1:p.Asp1557ArgfsTer17
NM_007297.4:c.4527dup	NP_009228.2:p.Asp1510ArgfsTer17
NM_007299.4:c.1356dup	NP_009230.2:p.Asp453ArgfsTer17
NM_007300.4:c.4731dup	NP_009231.2:p.Asp1578ArgfsTer17
NR_027676.2:n.4845dup