Canonical Allele Identifier: CA2260783741

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093235_43093236delinsTC , CM000679.2:g.43093235_43093236delinsTC	GRCh38
NC_000017.10:g.41245252_41245253delinsTC , CM000679.1:g.41245252_41245253delinsTC	GRCh37
NC_000017.9:g.38498778_38498779delinsTC	NCBI36
NG_005905.2:g.124748_124749delinsGA , LRG_292:g.124748_124749delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2359_2360delinsGA
ENST00000461574.2:c.2295_2296delinsGA	ENSP00000417241.2:p.Glu765=
ENST00000470026.6:c.2295_2296delinsGA	ENSP00000419274.2:p.Glu765=
ENST00000473961.6:c.2169_2170delinsGA	ENSP00000420201.2:p.Glu723=
ENST00000476777.6:c.2292_2293delinsGA	ENSP00000417554.2:p.Glu764=
ENST00000477152.6:c.2217_2218delinsGA	ENSP00000419988.2:p.Glu739=
ENST00000478531.6:c.784+1508_784+1509delinsGA	ENSP00000420412.2:n.784+1508_784+1509delinsGA
ENST00000489037.2:c.2217_2218delinsGA	ENSP00000420781.2:p.Glu739=
ENST00000493919.6:c.646+1508_646+1509delinsGA	ENSP00000418819.2:n.646+1508_646+1509delinsGA
ENST00000494123.6:c.2295_2296delinsGA	ENSP00000419103.2:p.Glu765=
ENST00000497488.2:c.1407_1408delinsGA	ENSP00000418986.2:p.Glu469=
ENST00000618469.2:c.2295_2296delinsGA	ENSP00000478114.2:p.Glu765=
ENST00000634433.2:c.2172_2173delinsGA	ENSP00000489431.2:p.Glu724=
ENST00000644379.2:c.2295_2296delinsGA	ENSP00000496570.2:p.Glu765=
ENST00000644555.2:c.646+1508_646+1509delinsGA	ENSP00000494614.2:n.646+1508_646+1509delinsGA
ENST00000652672.2:c.2154_2155delinsGA	ENSP00000498906.2:p.Glu718=
ENST00000484087.6:c.664+1508_664+1509delinsGA	ENSP00000419481.2:n.664+1508_664+1509delinsGA
ENST00000700182.1:c.706+1508_706+1509delinsGA	ENSP00000514849.1:n.706+1508_706+1509delinsGA
ENST00000357654.9:c.2295_2296delinsGA MANE Select	ENSP00000350283.3:p.Glu765=
ENST00000471181.7:c.2295_2296delinsGA	ENSP00000418960.2:p.Glu765=
ENST00000352993.7:c.671-2204_671-2203delinsGA	ENSP00000312236.5:n.671-2204_671-2203delinsGA
ENST00000354071.7:c.2295_2296delinsGA	ENSP00000326002.7:p.Glu765=
ENST00000357654.7:c.2295_2296delinsGA	ENSP00000350283.3:p.Glu765=
ENST00000461221.5:c.*2078_*2079delinsGA	ENSP00000418548.1:n.*2078_*2079delinsGA
ENST00000468300.5:c.787+1508_787+1509delinsGA	ENSP00000417148.1:n.787+1508_787+1509delinsGA
ENST00000471181.6:c.2295_2296delinsGA	ENSP00000418960.2:p.Glu765=
ENST00000478531.5:c.784+1508_784+1509delinsGA	ENSP00000420412.1:n.784+1508_784+1509delinsGA
ENST00000484087.5:c.409+1508_409+1509delinsGA	ENSP00000419481.1:n.409+1508_409+1509delinsGA
ENST00000487825.5:c.412+1508_412+1509delinsGA	ENSP00000418212.1:n.412+1508_412+1509delinsGA
ENST00000491747.6:c.787+1508_787+1509delinsGA	ENSP00000420705.2:n.787+1508_787+1509delinsGA
ENST00000493795.5:c.2154_2155delinsGA	ENSP00000418775.1:p.Glu718=
ENST00000493919.5:c.646+1508_646+1509delinsGA	ENSP00000418819.1:n.646+1508_646+1509delinsGA
ENST00000586385.5:c.5-29285_5-29284delinsGA	ENSP00000465818.1:n.5-29285_5-29284delinsGA
ENST00000591534.5:c.-43-18715_-43-18714delinsGA	ENSP00000467329.1:n.-43-18715_-43-18714delinsGA
ENST00000591849.5:c.-99+32035_-99+32036delinsGA	ENSP00000465347.1:n.-99+32035_-99+32036delinsGA
ENST00000634433.1:c.2172_2173delinsGA	ENSP00000489431.1:p.Glu724=
NM_007294.3:c.2295_2296delinsGA , LRG_292t1:c.2295_2296delinsGA	NP_009225.1:p.Glu765=
NM_007297.3:c.2154_2155delinsGA	NP_009228.2:p.Glu718=
NM_007298.3:c.787+1508_787+1509delinsGA	NP_009229.2:n.787+1508_787+1509delinsGA
NM_007299.3:c.787+1508_787+1509delinsGA	NP_009230.2:n.787+1508_787+1509delinsGA
NM_007300.3:c.2295_2296delinsGA	NP_009231.2:p.Glu765=
NR_027676.1:n.2431_2432delinsGA
NM_007294.4:c.2295_2296delinsGA MANE Select	NP_009225.1:p.Glu765=
NM_007297.4:c.2154_2155delinsGA	NP_009228.2:p.Glu718=
NM_007299.4:c.787+1508_787+1509delinsGA	NP_009230.2:n.787+1508_787+1509delinsGA
NM_007300.4:c.2295_2296delinsGA	NP_009231.2:p.Glu765=
NR_027676.2:n.2472_2473delinsGA