Canonical Allele Identifier: CA10581603
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 236267
ClinVar RCV Id: RCV000225660
dbSNP Id: rs878853289

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43093650_43093651insGG , CM000679.2:g.43093650_43093651insGG GRCh38
NC_000017.10:g.41245667_41245668insGG , CM000679.1:g.41245667_41245668insGG GRCh37
NC_000017.9:g.38499193_38499194insGG NCBI36
NG_005905.2:g.124334_124335insCC , LRG_292:g.124334_124335insCC

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.1945_1946insCC
ENST00000461574.2:c.1881_1882insCC ENSP00000417241.2:p.Ser628ProfsTer5
ENST00000470026.6:c.1881_1882insCC ENSP00000419274.2:p.Ser628ProfsTer5
ENST00000473961.6:c.1755_1756insCC ENSP00000420201.2:p.Ser586ProfsTer5
ENST00000476777.6:c.1878_1879insCC ENSP00000417554.2:p.Ser627ProfsTer5
ENST00000477152.6:c.1803_1804insCC ENSP00000419988.2:p.Ser602ProfsTer5
ENST00000478531.6:c.784+1094_784+1095insCC ENSP00000420412.2:n.784+1094_784+1095insC...
ENST00000489037.2:c.1803_1804insCC ENSP00000420781.2:p.Ser602ProfsTer5
ENST00000493919.6:c.646+1094_646+1095insCC ENSP00000418819.2:n.646+1094_646+1095insC...
ENST00000494123.6:c.1881_1882insCC ENSP00000419103.2:p.Ser628ProfsTer5
ENST00000497488.2:c.993_994insCC ENSP00000418986.2:p.Ser332ProfsTer5
ENST00000618469.2:c.1881_1882insCC ENSP00000478114.2:p.Ser628ProfsTer5
ENST00000634433.2:c.1758_1759insCC ENSP00000489431.2:p.Ser587ProfsTer5
ENST00000644379.2:c.1881_1882insCC ENSP00000496570.2:p.Ser628ProfsTer5
ENST00000644555.2:c.646+1094_646+1095insCC ENSP00000494614.2:n.646+1094_646+1095insC...
ENST00000652672.2:c.1740_1741insCC ENSP00000498906.2:p.Ser581ProfsTer5
ENST00000484087.6:c.664+1094_664+1095insCC ENSP00000419481.2:n.664+1094_664+1095insC...
ENST00000700182.1:c.706+1094_706+1095insCC ENSP00000514849.1:n.706+1094_706+1095insC...
ENST00000357654.9:c.1881_1882insCC MANE Select ENSP00000350283.3:p.Ser628ProfsTer5
ENST00000471181.7:c.1881_1882insCC ENSP00000418960.2:p.Ser628ProfsTer5
ENST00000652672.1:c.1740_1741insCC ENSP00000498906.1:p.Ser581ProfsTer5
ENST00000352993.7:c.670+2196_670+2197insCC ENSP00000312236.5:n.670+2196_670+2197insC...
ENST00000354071.7:c.1881_1882insCC ENSP00000326002.7:p.Ser628ProfsTer5
ENST00000357654.7:c.1881_1882insCC ENSP00000350283.3:p.Ser628ProfsTer5
ENST00000412061.3:c.1232_1233insCC
ENST00000461221.5:c.*1664_*1665insCC ENSP00000418548.1:n.*1664_*1665insCC
ENST00000468300.5:c.787+1094_787+1095insCC ENSP00000417148.1:n.787+1094_787+1095insC...
ENST00000470026.5:c.1881_1882insCC ENSP00000419274.1:p.Ser628ProfsTer5
ENST00000471181.6:c.1881_1882insCC ENSP00000418960.2:p.Ser628ProfsTer5
ENST00000477152.5:c.1803_1804insCC ENSP00000419988.1:p.Ser602ProfsTer5
ENST00000478531.5:c.784+1094_784+1095insCC ENSP00000420412.1:n.784+1094_784+1095insC...
ENST00000484087.5:c.409+1094_409+1095insCC ENSP00000419481.1:n.409+1094_409+1095insC...
ENST00000487825.5:c.412+1094_412+1095insCC ENSP00000418212.1:n.412+1094_412+1095insC...
ENST00000491747.6:c.787+1094_787+1095insCC ENSP00000420705.2:n.787+1094_787+1095insC...
ENST00000493795.5:c.1740_1741insCC ENSP00000418775.1:p.Ser581ProfsTer5
ENST00000493919.5:c.646+1094_646+1095insCC ENSP00000418819.1:n.646+1094_646+1095insC...
ENST00000586385.5:c.5-29699_5-29698insCC ENSP00000465818.1:n.5-29699_5-29698insCC
ENST00000591534.5:c.-43-19129_-43-19128insCC ENSP00000467329.1:n.-43-19129_-43-19128in...
ENST00000591849.5:c.-99+31621_-99+31622insCC ENSP00000465347.1:n.-99+31621_-99+31622in...
ENST00000634433.1:c.1758_1759insCC ENSP00000489431.1:p.Ser587ProfsTer5
NM_007294.3:c.1881_1882insCC , LRG_292t1:c.1881_1882insCC NP_009225.1:p.Ser628ProfsTer5
NM_007297.3:c.1740_1741insCC NP_009228.2:p.Ser581ProfsTer5
NM_007298.3:c.787+1094_787+1095insCC NP_009229.2:n.787+1094_787+1095insCC
NM_007299.3:c.787+1094_787+1095insCC NP_009230.2:n.787+1094_787+1095insCC
NM_007300.3:c.1881_1882insCC NP_009231.2:p.Ser628ProfsTer5
NR_027676.1:n.2017_2018insCC
NM_007294.4:c.1881_1882insCC MANE Select NP_009225.1:p.Ser628ProfsTer5
NM_007297.4:c.1740_1741insCC NP_009228.2:p.Ser581ProfsTer5
NM_007299.4:c.787+1094_787+1095insCC NP_009230.2:n.787+1094_787+1095insCC
NM_007300.4:c.1881_1882insCC NP_009231.2:p.Ser628ProfsTer5
NR_027676.2:n.2058_2059insCC