Canonical Allele Identifier: CA2580094110

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1781690
• ClinVar RCV Id: RCV002415107

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093657_43093660delinsGAA , CM000679.2:g.43093657_43093660delinsGAA	GRCh38
NC_000017.10:g.41245674_41245677delinsGAA , CM000679.1:g.41245674_41245677delinsGAA	GRCh37
NC_000017.9:g.38499200_38499203delinsGAA	NCBI36
NG_005905.2:g.124324_124327delinsTTC , LRG_292:g.124324_124327delinsTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1935_1938delinsTTC
ENST00000461574.2:c.1871_1874delinsTTC	ENSP00000417241.2:p.Glu624ValfsTer3
ENST00000470026.6:c.1871_1874delinsTTC	ENSP00000419274.2:p.Glu624ValfsTer3
ENST00000473961.6:c.1745_1748delinsTTC	ENSP00000420201.2:p.Glu582ValfsTer3
ENST00000476777.6:c.1868_1871delinsTTC	ENSP00000417554.2:p.Glu623ValfsTer3
ENST00000477152.6:c.1793_1796delinsTTC	ENSP00000419988.2:p.Glu598ValfsTer3
ENST00000478531.6:c.784+1084_784+1087delinsTTC	ENSP00000420412.2:n.784+1084_784+1087delinsTTC
ENST00000489037.2:c.1793_1796delinsTTC	ENSP00000420781.2:p.Glu598ValfsTer3
ENST00000493919.6:c.646+1084_646+1087delinsTTC	ENSP00000418819.2:n.646+1084_646+1087delinsTTC
ENST00000494123.6:c.1871_1874delinsTTC	ENSP00000419103.2:p.Glu624ValfsTer3
ENST00000497488.2:c.983_986delinsTTC	ENSP00000418986.2:p.Glu328ValfsTer3
ENST00000618469.2:c.1871_1874delinsTTC	ENSP00000478114.2:p.Glu624ValfsTer3
ENST00000634433.2:c.1748_1751delinsTTC	ENSP00000489431.2:p.Glu583ValfsTer3
ENST00000644379.2:c.1871_1874delinsTTC	ENSP00000496570.2:p.Glu624ValfsTer3
ENST00000644555.2:c.646+1084_646+1087delinsTTC	ENSP00000494614.2:n.646+1084_646+1087delinsTTC
ENST00000652672.2:c.1730_1733delinsTTC	ENSP00000498906.2:p.Glu577ValfsTer3
ENST00000484087.6:c.664+1084_664+1087delinsTTC	ENSP00000419481.2:n.664+1084_664+1087delinsTTC
ENST00000700182.1:c.706+1084_706+1087delinsTTC	ENSP00000514849.1:n.706+1084_706+1087delinsTTC
ENST00000357654.9:c.1871_1874delinsTTC MANE Select	ENSP00000350283.3:p.Glu624ValfsTer3
ENST00000471181.7:c.1871_1874delinsTTC	ENSP00000418960.2:p.Glu624ValfsTer3
ENST00000652672.1:c.1730_1733delinsTTC	ENSP00000498906.1:p.Glu577ValfsTer3
ENST00000352993.7:c.670+2186_670+2189delinsTTC	ENSP00000312236.5:n.670+2186_670+2189delinsTTC
ENST00000354071.7:c.1871_1874delinsTTC	ENSP00000326002.7:p.Glu624ValfsTer3
ENST00000357654.7:c.1871_1874delinsTTC	ENSP00000350283.3:p.Glu624ValfsTer3
ENST00000412061.3:c.1222_1225delinsTTC
ENST00000461221.5:c.*1654_*1657delinsTTC	ENSP00000418548.1:n.*1654_*1657delinsTTC
ENST00000468300.5:c.787+1084_787+1087delinsTTC	ENSP00000417148.1:n.787+1084_787+1087delinsTTC
ENST00000470026.5:c.1871_1874delinsTTC	ENSP00000419274.1:p.Glu624ValfsTer3
ENST00000471181.6:c.1871_1874delinsTTC	ENSP00000418960.2:p.Glu624ValfsTer3
ENST00000477152.5:c.1793_1796delinsTTC	ENSP00000419988.1:p.Glu598ValfsTer3
ENST00000478531.5:c.784+1084_784+1087delinsTTC	ENSP00000420412.1:n.784+1084_784+1087delinsTTC
ENST00000484087.5:c.409+1084_409+1087delinsTTC	ENSP00000419481.1:n.409+1084_409+1087delinsTTC
ENST00000487825.5:c.412+1084_412+1087delinsTTC	ENSP00000418212.1:n.412+1084_412+1087delinsTTC
ENST00000491747.6:c.787+1084_787+1087delinsTTC	ENSP00000420705.2:n.787+1084_787+1087delinsTTC
ENST00000493795.5:c.1730_1733delinsTTC	ENSP00000418775.1:p.Glu577ValfsTer3
ENST00000493919.5:c.646+1084_646+1087delinsTTC	ENSP00000418819.1:n.646+1084_646+1087delinsTTC
ENST00000586385.5:c.5-29709_5-29706delinsTTC	ENSP00000465818.1:n.5-29709_5-29706delinsTTC
ENST00000591534.5:c.-43-19139_-43-19136delinsTTC	ENSP00000467329.1:n.-43-19139_-43-19136delinsTTC
ENST00000591849.5:c.-99+31611_-99+31614delinsTTC	ENSP00000465347.1:n.-99+31611_-99+31614delinsTTC
ENST00000634433.1:c.1748_1751delinsTTC	ENSP00000489431.1:p.Glu583ValfsTer3
NM_007294.3:c.1871_1874delinsTTC , LRG_292t1:c.1871_1874delinsTTC	NP_009225.1:p.Glu624ValfsTer3
NM_007297.3:c.1730_1733delinsTTC	NP_009228.2:p.Glu577ValfsTer3
NM_007298.3:c.787+1084_787+1087delinsTTC	NP_009229.2:n.787+1084_787+1087delinsTTC
NM_007299.3:c.787+1084_787+1087delinsTTC	NP_009230.2:n.787+1084_787+1087delinsTTC
NM_007300.3:c.1871_1874delinsTTC	NP_009231.2:p.Glu624ValfsTer3
NR_027676.1:n.2007_2010delinsTTC
NM_007294.4:c.1871_1874delinsTTC MANE Select	NP_009225.1:p.Glu624ValfsTer3
NM_007297.4:c.1730_1733delinsTTC	NP_009228.2:p.Glu577ValfsTer3
NM_007299.4:c.787+1084_787+1087delinsTTC	NP_009230.2:n.787+1084_787+1087delinsTTC
NM_007300.4:c.1871_1874delinsTTC	NP_009231.2:p.Glu624ValfsTer3
NR_027676.2:n.2048_2051delinsTTC