Canonical Allele Identifier: CA2260784246

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093704_43093707delinsATTC , CM000679.2:g.43093704_43093707delinsATTC	GRCh38
NC_000017.10:g.41245721_41245724delinsATTC , CM000679.1:g.41245721_41245724delinsATTC	GRCh37
NC_000017.9:g.38499247_38499250delinsATTC	NCBI36
NG_005905.2:g.124277_124280delinsGAAT , LRG_292:g.124277_124280delinsGAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1888_1891delinsGAAT
ENST00000461574.2:c.1824_1827delinsGAAT	ENSP00000417241.2:p.Lys608=
ENST00000470026.6:c.1824_1827delinsGAAT	ENSP00000419274.2:p.Lys608=
ENST00000473961.6:c.1698_1701delinsGAAT	ENSP00000420201.2:p.Lys566=
ENST00000476777.6:c.1821_1824delinsGAAT	ENSP00000417554.2:p.Lys607=
ENST00000477152.6:c.1746_1749delinsGAAT	ENSP00000419988.2:p.Lys582=
ENST00000478531.6:c.784+1037_784+1040delinsGAAT	ENSP00000420412.2:n.784+1037_784+1040delinsGAAT
ENST00000489037.2:c.1746_1749delinsGAAT	ENSP00000420781.2:p.Lys582=
ENST00000493919.6:c.646+1037_646+1040delinsGAAT	ENSP00000418819.2:n.646+1037_646+1040delinsGAAT
ENST00000494123.6:c.1824_1827delinsGAAT	ENSP00000419103.2:p.Lys608=
ENST00000497488.2:c.936_939delinsGAAT	ENSP00000418986.2:p.Lys312=
ENST00000618469.2:c.1824_1827delinsGAAT	ENSP00000478114.2:p.Lys608=
ENST00000634433.2:c.1701_1704delinsGAAT	ENSP00000489431.2:p.Lys567=
ENST00000644379.2:c.1824_1827delinsGAAT	ENSP00000496570.2:p.Lys608=
ENST00000644555.2:c.646+1037_646+1040delinsGAAT	ENSP00000494614.2:n.646+1037_646+1040delinsGAAT
ENST00000652672.2:c.1683_1686delinsGAAT	ENSP00000498906.2:p.Lys561=
ENST00000484087.6:c.664+1037_664+1040delinsGAAT	ENSP00000419481.2:n.664+1037_664+1040delinsGAAT
ENST00000700182.1:c.706+1037_706+1040delinsGAAT	ENSP00000514849.1:n.706+1037_706+1040delinsGAAT
ENST00000357654.9:c.1824_1827delinsGAAT MANE Select	ENSP00000350283.3:p.Lys608=
ENST00000471181.7:c.1824_1827delinsGAAT	ENSP00000418960.2:p.Lys608=
ENST00000652672.1:c.1683_1686delinsGAAT	ENSP00000498906.1:p.Lys561=
ENST00000352993.7:c.670+2139_670+2142delinsGAAT	ENSP00000312236.5:n.670+2139_670+2142delinsGAAT
ENST00000354071.7:c.1824_1827delinsGAAT	ENSP00000326002.7:p.Lys608=
ENST00000357654.7:c.1824_1827delinsGAAT	ENSP00000350283.3:p.Lys608=
ENST00000412061.3:c.1175_1178delinsGAAT
ENST00000461221.5:c.*1607_*1610delinsGAAT	ENSP00000418548.1:n.*1607_*1610delinsGAAT
ENST00000468300.5:c.787+1037_787+1040delinsGAAT	ENSP00000417148.1:n.787+1037_787+1040delinsGAAT
ENST00000470026.5:c.1824_1827delinsGAAT	ENSP00000419274.1:p.Lys608=
ENST00000471181.6:c.1824_1827delinsGAAT	ENSP00000418960.2:p.Lys608=
ENST00000477152.5:c.1746_1749delinsGAAT	ENSP00000419988.1:p.Lys582=
ENST00000478531.5:c.784+1037_784+1040delinsGAAT	ENSP00000420412.1:n.784+1037_784+1040delinsGAAT
ENST00000484087.5:c.409+1037_409+1040delinsGAAT	ENSP00000419481.1:n.409+1037_409+1040delinsGAAT
ENST00000487825.5:c.412+1037_412+1040delinsGAAT	ENSP00000418212.1:n.412+1037_412+1040delinsGAAT
ENST00000491747.6:c.787+1037_787+1040delinsGAAT	ENSP00000420705.2:n.787+1037_787+1040delinsGAAT
ENST00000493795.5:c.1683_1686delinsGAAT	ENSP00000418775.1:p.Lys561=
ENST00000493919.5:c.646+1037_646+1040delinsGAAT	ENSP00000418819.1:n.646+1037_646+1040delinsGAAT
ENST00000586385.5:c.5-29756_5-29753delinsGAAT	ENSP00000465818.1:n.5-29756_5-29753delinsGAAT
ENST00000591534.5:c.-43-19186_-43-19183delinsGAAT	ENSP00000467329.1:n.-43-19186_-43-19183delinsGAAT
ENST00000591849.5:c.-99+31564_-99+31567delinsGAAT	ENSP00000465347.1:n.-99+31564_-99+31567delinsGAAT
ENST00000634433.1:c.1701_1704delinsGAAT	ENSP00000489431.1:p.Lys567=
NM_007294.3:c.1824_1827delinsGAAT , LRG_292t1:c.1824_1827delinsGAAT	NP_009225.1:p.Lys608=
NM_007297.3:c.1683_1686delinsGAAT	NP_009228.2:p.Lys561=
NM_007298.3:c.787+1037_787+1040delinsGAAT	NP_009229.2:n.787+1037_787+1040delinsGAAT
NM_007299.3:c.787+1037_787+1040delinsGAAT	NP_009230.2:n.787+1037_787+1040delinsGAAT
NM_007300.3:c.1824_1827delinsGAAT	NP_009231.2:p.Lys608=
NR_027676.1:n.1960_1963delinsGAAT
NM_007294.4:c.1824_1827delinsGAAT MANE Select	NP_009225.1:p.Lys608=
NM_007297.4:c.1683_1686delinsGAAT	NP_009228.2:p.Lys561=
NM_007299.4:c.787+1037_787+1040delinsGAAT	NP_009230.2:n.787+1037_787+1040delinsGAAT
NM_007300.4:c.1824_1827delinsGAAT	NP_009231.2:p.Lys608=
NR_027676.2:n.2001_2004delinsGAAT