Canonical Allele Identifier: CA10589912

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266197
• ClinVar RCV Id: RCV000256778
• dbSNP Id: rs886039977
• MyVariant Identifiers: chr17:g.41245648_41245661dupGTGGGCTTAGATTT (hg19) ; chr17:g.41245647_41245648insGTGGGCTTAGATTT (hg19) ; chr17:g.43093631_43093644dupGTGGGCTTAGATTT (hg38) ; chr17:g.43093630_43093631insGTGGGCTTAGATTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093631_43093644dup , CM000679.2:g.43093631_43093644dup	GRCh38
NC_000017.10:g.41245648_41245661dup , CM000679.1:g.41245648_41245661dup	GRCh37
NC_000017.9:g.38499174_38499187dup	NCBI36
NG_005905.2:g.124340_124353dup , LRG_292:g.124340_124353dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.1951_1964dup
ENST00000461574.2:c.1887_1900dup	ENSP00000417241.2:p.Pro634GlnfsTer3
ENST00000470026.6:c.1887_1900dup	ENSP00000419274.2:p.Pro634GlnfsTer3
ENST00000473961.6:c.1761_1774dup	ENSP00000420201.2:p.Pro592GlnfsTer3
ENST00000476777.6:c.1884_1897dup	ENSP00000417554.2:p.Pro633GlnfsTer3
ENST00000477152.6:c.1809_1822dup	ENSP00000419988.2:p.Pro608GlnfsTer3
ENST00000478531.6:c.784+1100_784+1113dup	ENSP00000420412.2:n.784+1100_784+1113dup
ENST00000489037.2:c.1809_1822dup	ENSP00000420781.2:p.Pro608GlnfsTer3
ENST00000493919.6:c.646+1100_646+1113dup	ENSP00000418819.2:n.646+1100_646+1113dup
ENST00000494123.6:c.1887_1900dup	ENSP00000419103.2:p.Pro634GlnfsTer3
ENST00000497488.2:c.999_1012dup	ENSP00000418986.2:p.Pro338GlnfsTer3
ENST00000618469.2:c.1887_1900dup	ENSP00000478114.2:p.Pro634GlnfsTer3
ENST00000634433.2:c.1764_1777dup	ENSP00000489431.2:p.Pro593GlnfsTer3
ENST00000644379.2:c.1887_1900dup	ENSP00000496570.2:p.Pro634GlnfsTer3
ENST00000644555.2:c.646+1100_646+1113dup	ENSP00000494614.2:n.646+1100_646+1113dup
ENST00000652672.2:c.1746_1759dup	ENSP00000498906.2:p.Pro587GlnfsTer3
ENST00000484087.6:c.664+1100_664+1113dup	ENSP00000419481.2:n.664+1100_664+1113dup
ENST00000700182.1:c.706+1100_706+1113dup	ENSP00000514849.1:n.706+1100_706+1113dup
ENST00000357654.9:c.1887_1900dup MANE Select	ENSP00000350283.3:p.Pro634GlnfsTer3
ENST00000471181.7:c.1887_1900dup	ENSP00000418960.2:p.Pro634GlnfsTer3
ENST00000652672.1:c.1746_1759dup	ENSP00000498906.1:p.Pro587GlnfsTer3
ENST00000352993.7:c.670+2202_670+2215dup	ENSP00000312236.5:n.670+2202_670+2215dup
ENST00000354071.7:c.1887_1900dup	ENSP00000326002.7:p.Pro634GlnfsTer3
ENST00000357654.7:c.1887_1900dup	ENSP00000350283.3:p.Pro634GlnfsTer3
ENST00000412061.3:c.1238_1251dup
ENST00000461221.5:c.*1670_*1683dup	ENSP00000418548.1:n.*1670_*1683dup
ENST00000468300.5:c.787+1100_787+1113dup	ENSP00000417148.1:n.787+1100_787+1113dup
ENST00000470026.5:c.1887_1900dup	ENSP00000419274.1:p.Pro634GlnfsTer3
ENST00000471181.6:c.1887_1900dup	ENSP00000418960.2:p.Pro634GlnfsTer3
ENST00000477152.5:c.1809_1822dup	ENSP00000419988.1:p.Pro608GlnfsTer3
ENST00000478531.5:c.784+1100_784+1113dup	ENSP00000420412.1:n.784+1100_784+1113dup
ENST00000484087.5:c.409+1100_409+1113dup	ENSP00000419481.1:n.409+1100_409+1113dup
ENST00000487825.5:c.412+1100_412+1113dup	ENSP00000418212.1:n.412+1100_412+1113dup
ENST00000491747.6:c.787+1100_787+1113dup	ENSP00000420705.2:n.787+1100_787+1113dup
ENST00000493795.5:c.1746_1759dup	ENSP00000418775.1:p.Pro587GlnfsTer3
ENST00000493919.5:c.646+1100_646+1113dup	ENSP00000418819.1:n.646+1100_646+1113dup
ENST00000586385.5:c.5-29693_5-29680dup	ENSP00000465818.1:n.5-29693_5-29680dup
ENST00000591534.5:c.-43-19123_-43-19110dup	ENSP00000467329.1:n.-43-19123_-43-19110du...
ENST00000591849.5:c.-99+31627_-99+31640dup	ENSP00000465347.1:n.-99+31627_-99+31640du...
ENST00000634433.1:c.1764_1777dup	ENSP00000489431.1:p.Pro593GlnfsTer3
NM_007294.3:c.1887_1900dup , LRG_292t1:c.1887_1900dup	NP_009225.1:p.Pro634GlnfsTer3
NM_007297.3:c.1746_1759dup	NP_009228.2:p.Pro587GlnfsTer3
NM_007298.3:c.787+1100_787+1113dup	NP_009229.2:n.787+1100_787+1113dup
NM_007299.3:c.787+1100_787+1113dup	NP_009230.2:n.787+1100_787+1113dup
NM_007300.3:c.1887_1900dup	NP_009231.2:p.Pro634GlnfsTer3
NR_027676.1:n.2023_2036dup
NM_007294.4:c.1887_1900dup MANE Select	NP_009225.1:p.Pro634GlnfsTer3
NM_007297.4:c.1746_1759dup	NP_009228.2:p.Pro587GlnfsTer3
NM_007299.4:c.787+1100_787+1113dup	NP_009230.2:n.787+1100_787+1113dup
NM_007300.4:c.1887_1900dup	NP_009231.2:p.Pro634GlnfsTer3
NR_027676.2:n.2064_2077dup