Canonical Allele Identifier: CA2260784098

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093562_43093569delinsGGTTGTAC , CM000679.2:g.43093562_43093569delinsGGTTGTAC	GRCh38
NC_000017.10:g.41245579_41245586delinsGGTTGTAC , CM000679.1:g.41245579_41245586delinsGGTTGTAC	GRCh37
NC_000017.9:g.38499105_38499112delinsGGTTGTAC	NCBI36
NG_005905.2:g.124415_124422delinsGTACAACC , LRG_292:g.124415_124422delinsGTACAACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2026_2033delinsGTACAACC
ENST00000461574.2:c.1962_1969delinsGTACAACC	ENSP00000417241.2:p.Lys654=
ENST00000470026.6:c.1962_1969delinsGTACAACC	ENSP00000419274.2:p.Lys654=
ENST00000473961.6:c.1836_1843delinsGTACAACC	ENSP00000420201.2:p.Lys612=
ENST00000476777.6:c.1959_1966delinsGTACAACC	ENSP00000417554.2:p.Lys653=
ENST00000477152.6:c.1884_1891delinsGTACAACC	ENSP00000419988.2:p.Lys628=
ENST00000478531.6:c.784+1175_784+1182delinsGTACAACC	ENSP00000420412.2:n.784+1175_784+1182delinsGTACAACC
ENST00000489037.2:c.1884_1891delinsGTACAACC	ENSP00000420781.2:p.Lys628=
ENST00000493919.6:c.646+1175_646+1182delinsGTACAACC	ENSP00000418819.2:n.646+1175_646+1182delinsGTACAACC
ENST00000494123.6:c.1962_1969delinsGTACAACC	ENSP00000419103.2:p.Lys654=
ENST00000497488.2:c.1074_1081delinsGTACAACC	ENSP00000418986.2:p.Lys358=
ENST00000618469.2:c.1962_1969delinsGTACAACC	ENSP00000478114.2:p.Lys654=
ENST00000634433.2:c.1839_1846delinsGTACAACC	ENSP00000489431.2:p.Lys613=
ENST00000644379.2:c.1962_1969delinsGTACAACC	ENSP00000496570.2:p.Lys654=
ENST00000644555.2:c.646+1175_646+1182delinsGTACAACC	ENSP00000494614.2:n.646+1175_646+1182delinsGTACAACC
ENST00000652672.2:c.1821_1828delinsGTACAACC	ENSP00000498906.2:p.Lys607=
ENST00000484087.6:c.664+1175_664+1182delinsGTACAACC	ENSP00000419481.2:n.664+1175_664+1182delinsGTACAACC
ENST00000700182.1:c.706+1175_706+1182delinsGTACAACC	ENSP00000514849.1:n.706+1175_706+1182delinsGTACAACC
ENST00000357654.9:c.1962_1969delinsGTACAACC MANE Select	ENSP00000350283.3:p.Lys654=
ENST00000471181.7:c.1962_1969delinsGTACAACC	ENSP00000418960.2:p.Lys654=
ENST00000352993.7:c.670+2277_670+2284delinsGTACAACC	ENSP00000312236.5:n.670+2277_670+2284delinsGTACAACC
ENST00000354071.7:c.1962_1969delinsGTACAACC	ENSP00000326002.7:p.Lys654=
ENST00000357654.7:c.1962_1969delinsGTACAACC	ENSP00000350283.3:p.Lys654=
ENST00000461221.5:c.*1745_*1752delinsGTACAACC	ENSP00000418548.1:n.*1745_*1752delinsGTACAACC
ENST00000468300.5:c.787+1175_787+1182delinsGTACAACC	ENSP00000417148.1:n.787+1175_787+1182delinsGTACAACC
ENST00000471181.6:c.1962_1969delinsGTACAACC	ENSP00000418960.2:p.Lys654=
ENST00000478531.5:c.784+1175_784+1182delinsGTACAACC	ENSP00000420412.1:n.784+1175_784+1182delinsGTACAACC
ENST00000484087.5:c.409+1175_409+1182delinsGTACAACC	ENSP00000419481.1:n.409+1175_409+1182delinsGTACAACC
ENST00000487825.5:c.412+1175_412+1182delinsGTACAACC	ENSP00000418212.1:n.412+1175_412+1182delinsGTACAACC
ENST00000491747.6:c.787+1175_787+1182delinsGTACAACC	ENSP00000420705.2:n.787+1175_787+1182delinsGTACAACC
ENST00000493795.5:c.1821_1828delinsGTACAACC	ENSP00000418775.1:p.Lys607=
ENST00000493919.5:c.646+1175_646+1182delinsGTACAACC	ENSP00000418819.1:n.646+1175_646+1182delinsGTACAACC
ENST00000586385.5:c.5-29618_5-29611delinsGTACAACC	ENSP00000465818.1:n.5-29618_5-29611delinsGTACAACC
ENST00000591534.5:c.-43-19048_-43-19041delinsGTACAACC	ENSP00000467329.1:n.-43-19048_-43-19041delinsGTACAACC
ENST00000591849.5:c.-99+31702_-99+31709delinsGTACAACC	ENSP00000465347.1:n.-99+31702_-99+31709delinsGTACAACC
ENST00000634433.1:c.1839_1846delinsGTACAACC	ENSP00000489431.1:p.Lys613=
NM_007294.3:c.1962_1969delinsGTACAACC , LRG_292t1:c.1962_1969delinsGTACAACC	NP_009225.1:p.Lys654=
NM_007297.3:c.1821_1828delinsGTACAACC	NP_009228.2:p.Lys607=
NM_007298.3:c.787+1175_787+1182delinsGTACAACC	NP_009229.2:n.787+1175_787+1182delinsGTACAACC
NM_007299.3:c.787+1175_787+1182delinsGTACAACC	NP_009230.2:n.787+1175_787+1182delinsGTACAACC
NM_007300.3:c.1962_1969delinsGTACAACC	NP_009231.2:p.Lys654=
NR_027676.1:n.2098_2105delinsGTACAACC
NM_007294.4:c.1962_1969delinsGTACAACC MANE Select	NP_009225.1:p.Lys654=
NM_007297.4:c.1821_1828delinsGTACAACC	NP_009228.2:p.Lys607=
NM_007299.4:c.787+1175_787+1182delinsGTACAACC	NP_009230.2:n.787+1175_787+1182delinsGTACAACC
NM_007300.4:c.1962_1969delinsGTACAACC	NP_009231.2:p.Lys654=
NR_027676.2:n.2139_2146delinsGTACAACC