Canonical Allele Identifier: CA10586601

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 254465
• ClinVar RCV Id: RCV000241439
• dbSNP Id: rs886038043
• MyVariant Identifiers: chr17:g.41209072_41209078del (hg19) ; chr17:g.43057055_43057061del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057056_43057062del , CM000679.2:g.43057056_43057062del	GRCh38
NC_000017.10:g.41209073_41209079del , CM000679.1:g.41209073_41209079del	GRCh37
NC_000017.9:g.38462599_38462605del	NCBI36
NG_005905.2:g.160923_160929del , LRG_292:g.160923_160929del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5265_5271del	ENSP00000417241.2:p.Asp1756ArgfsTer6
ENST00000470026.6:c.5268_5274del	ENSP00000419274.2:p.Asp1757ArgfsTer6
ENST00000473961.6:c.5142_5148del	ENSP00000420201.2:p.Asp1715ArgfsTer6
ENST00000476777.6:c.5262_5268del	ENSP00000417554.2:p.Asp1755ArgfsTer6
ENST00000477152.6:c.5190_5196del	ENSP00000419988.2:p.Asp1731ArgfsTer6
ENST00000478531.6:c.1956_1962del	ENSP00000420412.2:p.Asp653ArgfsTer6
ENST00000489037.2:c.5190_5196del	ENSP00000420781.2:p.Asp1731ArgfsTer6
ENST00000493919.6:c.1818_1824del	ENSP00000418819.2:p.Asp607ArgfsTer6
ENST00000494123.6:c.5268_5274del	ENSP00000419103.2:p.Asp1757ArgfsTer6
ENST00000497488.2:c.4380_4386del	ENSP00000418986.2:p.Asp1461ArgfsTer6
ENST00000618469.2:c.5268_5274del	ENSP00000478114.2:p.Asp1757ArgfsTer6
ENST00000634433.2:c.5145_5151del	ENSP00000489431.2:p.Asp1716ArgfsTer6
ENST00000644379.2:c.5334_5340del	ENSP00000496570.2:p.Asp1779ArgfsTer6
ENST00000644555.2:c.1818_1824del	ENSP00000494614.2:p.Asp607ArgfsTer6
ENST00000652672.2:c.5127_5133del	ENSP00000498906.2:p.Asp1710ArgfsTer6
ENST00000484087.6:c.1830_1836del	ENSP00000419481.2:p.Asp611ArgfsTer6
ENST00000357654.9:c.5268_5274del MANE Select	ENSP00000350283.3:p.Asp1757ArgfsTer6
ENST00000471181.7:c.5331_5337del	ENSP00000418960.2:p.Asp1778ArgfsTer6
ENST00000644379.1:c.1655_1661del
ENST00000352993.7:c.1842_1848del	ENSP00000312236.5:p.Asp615ArgfsTer6
ENST00000357654.7:c.5268_5274del	ENSP00000350283.3:p.Asp1757ArgfsTer6
ENST00000461221.5:c.*5051_*5057del	ENSP00000418548.1:n.*5051_*5057del
ENST00000468300.5:c.1956_1962del	ENSP00000417148.1:p.Asp653ArgfsTer6
ENST00000471181.6:c.5331_5337del	ENSP00000418960.2:p.Asp1778ArgfsTer6
ENST00000491747.6:c.1956_1962del	ENSP00000420705.2:p.Asp653ArgfsTer6
ENST00000493795.5:c.5127_5133del	ENSP00000418775.1:p.Asp1710ArgfsTer6
ENST00000586385.5:c.198_204del	ENSP00000465818.1:p.Asp67ArgfsTer6
ENST00000591534.5:c.741_747del	ENSP00000467329.1:p.Asp248ArgfsTer6
ENST00000591849.5:c.-98-6871_-98-6865del	ENSP00000465347.1:n.-98-6871_-98-6865del
NM_007294.3:c.5268_5274del , LRG_292t1:c.5268_5274del	NP_009225.1:p.Asp1757ArgfsTer6
NM_007297.3:c.5127_5133del	NP_009228.2:p.Asp1710ArgfsTer6
NM_007298.3:c.1956_1962del	NP_009229.2:p.Asp653ArgfsTer6
NM_007299.3:c.1956_1962del	NP_009230.2:p.Asp653ArgfsTer6
NM_007300.3:c.5331_5337del	NP_009231.2:p.Asp1778ArgfsTer6
NR_027676.1:n.5404_5410del
NM_007294.4:c.5268_5274del MANE Select	NP_009225.1:p.Asp1757ArgfsTer6
NM_007297.4:c.5127_5133del	NP_009228.2:p.Asp1710ArgfsTer6
NM_007299.4:c.1956_1962del	NP_009230.2:p.Asp653ArgfsTer6
NM_007300.4:c.5331_5337del	NP_009231.2:p.Asp1778ArgfsTer6
NR_027676.2:n.5445_5451del