Canonical Allele Identifier: CA2260783836

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093327_43093328delinsAG , CM000679.2:g.43093327_43093328delinsAG	GRCh38
NC_000017.10:g.41245344_41245345delinsAG , CM000679.1:g.41245344_41245345delinsAG	GRCh37
NC_000017.9:g.38498870_38498871delinsAG	NCBI36
NG_005905.2:g.124656_124657delinsCT , LRG_292:g.124656_124657delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2267_2268delinsCT
ENST00000461574.2:c.2203_2204delinsCT	ENSP00000417241.2:p.Leu735=
ENST00000470026.6:c.2203_2204delinsCT	ENSP00000419274.2:p.Leu735=
ENST00000473961.6:c.2077_2078delinsCT	ENSP00000420201.2:p.Leu693=
ENST00000476777.6:c.2200_2201delinsCT	ENSP00000417554.2:p.Leu734=
ENST00000477152.6:c.2125_2126delinsCT	ENSP00000419988.2:p.Leu709=
ENST00000478531.6:c.784+1416_784+1417delinsCT	ENSP00000420412.2:n.784+1416_784+1417delinsCT
ENST00000489037.2:c.2125_2126delinsCT	ENSP00000420781.2:p.Leu709=
ENST00000493919.6:c.646+1416_646+1417delinsCT	ENSP00000418819.2:n.646+1416_646+1417delinsCT
ENST00000494123.6:c.2203_2204delinsCT	ENSP00000419103.2:p.Leu735=
ENST00000497488.2:c.1315_1316delinsCT	ENSP00000418986.2:p.Leu439=
ENST00000618469.2:c.2203_2204delinsCT	ENSP00000478114.2:p.Leu735=
ENST00000634433.2:c.2080_2081delinsCT	ENSP00000489431.2:p.Leu694=
ENST00000644379.2:c.2203_2204delinsCT	ENSP00000496570.2:p.Leu735=
ENST00000644555.2:c.646+1416_646+1417delinsCT	ENSP00000494614.2:n.646+1416_646+1417delinsCT
ENST00000652672.2:c.2062_2063delinsCT	ENSP00000498906.2:p.Leu688=
ENST00000484087.6:c.664+1416_664+1417delinsCT	ENSP00000419481.2:n.664+1416_664+1417delinsCT
ENST00000700182.1:c.706+1416_706+1417delinsCT	ENSP00000514849.1:n.706+1416_706+1417delinsCT
ENST00000357654.9:c.2203_2204delinsCT MANE Select	ENSP00000350283.3:p.Leu735=
ENST00000471181.7:c.2203_2204delinsCT	ENSP00000418960.2:p.Leu735=
ENST00000352993.7:c.671-2296_671-2295delinsCT	ENSP00000312236.5:n.671-2296_671-2295delinsCT
ENST00000354071.7:c.2203_2204delinsCT	ENSP00000326002.7:p.Leu735=
ENST00000357654.7:c.2203_2204delinsCT	ENSP00000350283.3:p.Leu735=
ENST00000461221.5:c.*1986_*1987delinsCT	ENSP00000418548.1:n.*1986_*1987delinsCT
ENST00000468300.5:c.787+1416_787+1417delinsCT	ENSP00000417148.1:n.787+1416_787+1417delinsCT
ENST00000471181.6:c.2203_2204delinsCT	ENSP00000418960.2:p.Leu735=
ENST00000478531.5:c.784+1416_784+1417delinsCT	ENSP00000420412.1:n.784+1416_784+1417delinsCT
ENST00000484087.5:c.409+1416_409+1417delinsCT	ENSP00000419481.1:n.409+1416_409+1417delinsCT
ENST00000487825.5:c.412+1416_412+1417delinsCT	ENSP00000418212.1:n.412+1416_412+1417delinsCT
ENST00000491747.6:c.787+1416_787+1417delinsCT	ENSP00000420705.2:n.787+1416_787+1417delinsCT
ENST00000493795.5:c.2062_2063delinsCT	ENSP00000418775.1:p.Leu688=
ENST00000493919.5:c.646+1416_646+1417delinsCT	ENSP00000418819.1:n.646+1416_646+1417delinsCT
ENST00000586385.5:c.5-29377_5-29376delinsCT	ENSP00000465818.1:n.5-29377_5-29376delinsCT
ENST00000591534.5:c.-43-18807_-43-18806delinsCT	ENSP00000467329.1:n.-43-18807_-43-18806delinsCT
ENST00000591849.5:c.-99+31943_-99+31944delinsCT	ENSP00000465347.1:n.-99+31943_-99+31944delinsCT
ENST00000634433.1:c.2080_2081delinsCT	ENSP00000489431.1:p.Leu694=
NM_007294.3:c.2203_2204delinsCT , LRG_292t1:c.2203_2204delinsCT	NP_009225.1:p.Leu735=
NM_007297.3:c.2062_2063delinsCT	NP_009228.2:p.Leu688=
NM_007298.3:c.787+1416_787+1417delinsCT	NP_009229.2:n.787+1416_787+1417delinsCT
NM_007299.3:c.787+1416_787+1417delinsCT	NP_009230.2:n.787+1416_787+1417delinsCT
NM_007300.3:c.2203_2204delinsCT	NP_009231.2:p.Leu735=
NR_027676.1:n.2339_2340delinsCT
NM_007294.4:c.2203_2204delinsCT MANE Select	NP_009225.1:p.Leu735=
NM_007297.4:c.2062_2063delinsCT	NP_009228.2:p.Leu688=
NM_007299.4:c.787+1416_787+1417delinsCT	NP_009230.2:n.787+1416_787+1417delinsCT
NM_007300.4:c.2203_2204delinsCT	NP_009231.2:p.Leu735=
NR_027676.2:n.2380_2381delinsCT