Canonical Allele Identifier: CA2695226263

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093657_43093658insCTAA , CM000679.2:g.43093657_43093658insCTAA	GRCh38
NC_000017.10:g.41245674_41245675insCTAA , CM000679.1:g.41245674_41245675insCTAA	GRCh37
NC_000017.9:g.38499200_38499201insCTAA	NCBI36
NG_005905.2:g.124327_124328insTAGT , LRG_292:g.124327_124328insTAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1938_1939insTAGT
ENST00000461574.2:c.1874_1875insTAGT	ENSP00000417241.2:p.Val626SerfsTer5
ENST00000470026.6:c.1874_1875insTAGT	ENSP00000419274.2:p.Val626SerfsTer5
ENST00000473961.6:c.1748_1749insTAGT	ENSP00000420201.2:p.Val584SerfsTer5
ENST00000476777.6:c.1871_1872insTAGT	ENSP00000417554.2:p.Val625SerfsTer5
ENST00000477152.6:c.1796_1797insTAGT	ENSP00000419988.2:p.Val600SerfsTer5
ENST00000478531.6:c.784+1087_784+1088insTAGT	ENSP00000420412.2:n.784+1087_784+1088insTAGT
ENST00000489037.2:c.1796_1797insTAGT	ENSP00000420781.2:p.Val600SerfsTer5
ENST00000493919.6:c.646+1087_646+1088insTAGT	ENSP00000418819.2:n.646+1087_646+1088insTAGT
ENST00000494123.6:c.1874_1875insTAGT	ENSP00000419103.2:p.Val626SerfsTer5
ENST00000497488.2:c.986_987insTAGT	ENSP00000418986.2:p.Val330SerfsTer5
ENST00000618469.2:c.1874_1875insTAGT	ENSP00000478114.2:p.Val626SerfsTer5
ENST00000634433.2:c.1751_1752insTAGT	ENSP00000489431.2:p.Val585SerfsTer5
ENST00000644379.2:c.1874_1875insTAGT	ENSP00000496570.2:p.Val626SerfsTer5
ENST00000644555.2:c.646+1087_646+1088insTAGT	ENSP00000494614.2:n.646+1087_646+1088insTAGT
ENST00000652672.2:c.1733_1734insTAGT	ENSP00000498906.2:p.Val579SerfsTer5
ENST00000484087.6:c.664+1087_664+1088insTAGT	ENSP00000419481.2:n.664+1087_664+1088insTAGT
ENST00000700182.1:c.706+1087_706+1088insTAGT	ENSP00000514849.1:n.706+1087_706+1088insTAGT
ENST00000357654.9:c.1874_1875insTAGT MANE Select	ENSP00000350283.3:p.Val626SerfsTer5
ENST00000471181.7:c.1874_1875insTAGT	ENSP00000418960.2:p.Val626SerfsTer5
ENST00000652672.1:c.1733_1734insTAGT	ENSP00000498906.1:p.Val579SerfsTer5
ENST00000352993.7:c.670+2189_670+2190insTAGT	ENSP00000312236.5:n.670+2189_670+2190insTAGT
ENST00000354071.7:c.1874_1875insTAGT	ENSP00000326002.7:p.Val626SerfsTer5
ENST00000357654.7:c.1874_1875insTAGT	ENSP00000350283.3:p.Val626SerfsTer5
ENST00000412061.3:c.1225_1226insTAGT
ENST00000461221.5:c.*1657_*1658insTAGT	ENSP00000418548.1:n.*1657_*1658insTAGT
ENST00000468300.5:c.787+1087_787+1088insTAGT	ENSP00000417148.1:n.787+1087_787+1088insTAGT
ENST00000470026.5:c.1874_1875insTAGT	ENSP00000419274.1:p.Val626SerfsTer5
ENST00000471181.6:c.1874_1875insTAGT	ENSP00000418960.2:p.Val626SerfsTer5
ENST00000477152.5:c.1796_1797insTAGT	ENSP00000419988.1:p.Val600SerfsTer5
ENST00000478531.5:c.784+1087_784+1088insTAGT	ENSP00000420412.1:n.784+1087_784+1088insTAGT
ENST00000484087.5:c.409+1087_409+1088insTAGT	ENSP00000419481.1:n.409+1087_409+1088insTAGT
ENST00000487825.5:c.412+1087_412+1088insTAGT	ENSP00000418212.1:n.412+1087_412+1088insTAGT
ENST00000491747.6:c.787+1087_787+1088insTAGT	ENSP00000420705.2:n.787+1087_787+1088insTAGT
ENST00000493795.5:c.1733_1734insTAGT	ENSP00000418775.1:p.Val579SerfsTer5
ENST00000493919.5:c.646+1087_646+1088insTAGT	ENSP00000418819.1:n.646+1087_646+1088insTAGT
ENST00000586385.5:c.5-29706_5-29705insTAGT	ENSP00000465818.1:n.5-29706_5-29705insTAGT
ENST00000591534.5:c.-43-19136_-43-19135insTAGT	ENSP00000467329.1:n.-43-19136_-43-19135insTAGT
ENST00000591849.5:c.-99+31614_-99+31615insTAGT	ENSP00000465347.1:n.-99+31614_-99+31615insTAGT
ENST00000634433.1:c.1751_1752insTAGT	ENSP00000489431.1:p.Val585SerfsTer5
NM_007294.3:c.1874_1875insTAGT , LRG_292t1:c.1874_1875insTAGT	NP_009225.1:p.Val626SerfsTer5
NM_007297.3:c.1733_1734insTAGT	NP_009228.2:p.Val579SerfsTer5
NM_007298.3:c.787+1087_787+1088insTAGT	NP_009229.2:n.787+1087_787+1088insTAGT
NM_007299.3:c.787+1087_787+1088insTAGT	NP_009230.2:n.787+1087_787+1088insTAGT
NM_007300.3:c.1874_1875insTAGT	NP_009231.2:p.Val626SerfsTer5
NR_027676.1:n.2010_2011insTAGT
NM_007294.4:c.1874_1875insTAGT MANE Select	NP_009225.1:p.Val626SerfsTer5
NM_007297.4:c.1733_1734insTAGT	NP_009228.2:p.Val579SerfsTer5
NM_007299.4:c.787+1087_787+1088insTAGT	NP_009230.2:n.787+1087_787+1088insTAGT
NM_007300.4:c.1874_1875insTAGT	NP_009231.2:p.Val626SerfsTer5
NR_027676.2:n.2051_2052insTAGT