Canonical Allele Identifier: CA2260783718

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093216_43093217delinsAC , CM000679.2:g.43093216_43093217delinsAC	GRCh38
NC_000017.10:g.41245233_41245234delinsAC , CM000679.1:g.41245233_41245234delinsAC	GRCh37
NC_000017.9:g.38498759_38498760delinsAC	NCBI36
NG_005905.2:g.124767_124768delinsGT , LRG_292:g.124767_124768delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2378_2379delinsGT
ENST00000461574.2:c.2314_2315delinsGT	ENSP00000417241.2:p.Val772=
ENST00000470026.6:c.2314_2315delinsGT	ENSP00000419274.2:p.Val772=
ENST00000473961.6:c.2188_2189delinsGT	ENSP00000420201.2:p.Val730=
ENST00000476777.6:c.2311_2312delinsGT	ENSP00000417554.2:p.Val771=
ENST00000477152.6:c.2236_2237delinsGT	ENSP00000419988.2:p.Val746=
ENST00000478531.6:c.784+1527_784+1528delinsGT	ENSP00000420412.2:n.784+1527_784+1528delinsGT
ENST00000489037.2:c.2236_2237delinsGT	ENSP00000420781.2:p.Val746=
ENST00000493919.6:c.646+1527_646+1528delinsGT	ENSP00000418819.2:n.646+1527_646+1528delinsGT
ENST00000494123.6:c.2314_2315delinsGT	ENSP00000419103.2:p.Val772=
ENST00000497488.2:c.1426_1427delinsGT	ENSP00000418986.2:p.Val476=
ENST00000618469.2:c.2314_2315delinsGT	ENSP00000478114.2:p.Val772=
ENST00000634433.2:c.2191_2192delinsGT	ENSP00000489431.2:p.Val731=
ENST00000644379.2:c.2314_2315delinsGT	ENSP00000496570.2:p.Val772=
ENST00000644555.2:c.646+1527_646+1528delinsGT	ENSP00000494614.2:n.646+1527_646+1528delinsGT
ENST00000652672.2:c.2173_2174delinsGT	ENSP00000498906.2:p.Val725=
ENST00000484087.6:c.664+1527_664+1528delinsGT	ENSP00000419481.2:n.664+1527_664+1528delinsGT
ENST00000700182.1:c.706+1527_706+1528delinsGT	ENSP00000514849.1:n.706+1527_706+1528delinsGT
ENST00000357654.9:c.2314_2315delinsGT MANE Select	ENSP00000350283.3:p.Val772=
ENST00000471181.7:c.2314_2315delinsGT	ENSP00000418960.2:p.Val772=
ENST00000352993.7:c.671-2185_671-2184delinsGT	ENSP00000312236.5:n.671-2185_671-2184delinsGT
ENST00000354071.7:c.2314_2315delinsGT	ENSP00000326002.7:p.Val772=
ENST00000357654.7:c.2314_2315delinsGT	ENSP00000350283.3:p.Val772=
ENST00000461221.5:c.*2097_*2098delinsGT	ENSP00000418548.1:n.*2097_*2098delinsGT
ENST00000468300.5:c.787+1527_787+1528delinsGT	ENSP00000417148.1:n.787+1527_787+1528delinsGT
ENST00000471181.6:c.2314_2315delinsGT	ENSP00000418960.2:p.Val772=
ENST00000478531.5:c.784+1527_784+1528delinsGT	ENSP00000420412.1:n.784+1527_784+1528delinsGT
ENST00000484087.5:c.409+1527_409+1528delinsGT	ENSP00000419481.1:n.409+1527_409+1528delinsGT
ENST00000487825.5:c.412+1527_412+1528delinsGT	ENSP00000418212.1:n.412+1527_412+1528delinsGT
ENST00000491747.6:c.787+1527_787+1528delinsGT	ENSP00000420705.2:n.787+1527_787+1528delinsGT
ENST00000493795.5:c.2173_2174delinsGT	ENSP00000418775.1:p.Val725=
ENST00000493919.5:c.646+1527_646+1528delinsGT	ENSP00000418819.1:n.646+1527_646+1528delinsGT
ENST00000586385.5:c.5-29266_5-29265delinsGT	ENSP00000465818.1:n.5-29266_5-29265delinsGT
ENST00000591534.5:c.-43-18696_-43-18695delinsGT	ENSP00000467329.1:n.-43-18696_-43-18695delinsGT
ENST00000591849.5:c.-99+32054_-99+32055delinsGT	ENSP00000465347.1:n.-99+32054_-99+32055delinsGT
ENST00000634433.1:c.2191_2192delinsGT	ENSP00000489431.1:p.Val731=
NM_007294.3:c.2314_2315delinsGT , LRG_292t1:c.2314_2315delinsGT	NP_009225.1:p.Val772=
NM_007297.3:c.2173_2174delinsGT	NP_009228.2:p.Val725=
NM_007298.3:c.787+1527_787+1528delinsGT	NP_009229.2:n.787+1527_787+1528delinsGT
NM_007299.3:c.787+1527_787+1528delinsGT	NP_009230.2:n.787+1527_787+1528delinsGT
NM_007300.3:c.2314_2315delinsGT	NP_009231.2:p.Val772=
NR_027676.1:n.2450_2451delinsGT
NM_007294.4:c.2314_2315delinsGT MANE Select	NP_009225.1:p.Val772=
NM_007297.4:c.2173_2174delinsGT	NP_009228.2:p.Val725=
NM_007299.4:c.787+1527_787+1528delinsGT	NP_009230.2:n.787+1527_787+1528delinsGT
NM_007300.4:c.2314_2315delinsGT	NP_009231.2:p.Val772=
NR_027676.2:n.2491_2492delinsGT