Canonical Allele Identifier: CA2260783790

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093285_43093286delinsTC , CM000679.2:g.43093285_43093286delinsTC	GRCh38
NC_000017.10:g.41245302_41245303delinsTC , CM000679.1:g.41245302_41245303delinsTC	GRCh37
NC_000017.9:g.38498828_38498829delinsTC	NCBI36
NG_005905.2:g.124698_124699delinsGA , LRG_292:g.124698_124699delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2309_2310delinsGA
ENST00000461574.2:c.2245_2246delinsGA	ENSP00000417241.2:p.Asp749=
ENST00000470026.6:c.2245_2246delinsGA	ENSP00000419274.2:p.Asp749=
ENST00000473961.6:c.2119_2120delinsGA	ENSP00000420201.2:p.Asp707=
ENST00000476777.6:c.2242_2243delinsGA	ENSP00000417554.2:p.Asp748=
ENST00000477152.6:c.2167_2168delinsGA	ENSP00000419988.2:p.Asp723=
ENST00000478531.6:c.784+1458_784+1459delinsGA	ENSP00000420412.2:n.784+1458_784+1459delinsGA
ENST00000489037.2:c.2167_2168delinsGA	ENSP00000420781.2:p.Asp723=
ENST00000493919.6:c.646+1458_646+1459delinsGA	ENSP00000418819.2:n.646+1458_646+1459delinsGA
ENST00000494123.6:c.2245_2246delinsGA	ENSP00000419103.2:p.Asp749=
ENST00000497488.2:c.1357_1358delinsGA	ENSP00000418986.2:p.Asp453=
ENST00000618469.2:c.2245_2246delinsGA	ENSP00000478114.2:p.Asp749=
ENST00000634433.2:c.2122_2123delinsGA	ENSP00000489431.2:p.Asp708=
ENST00000644379.2:c.2245_2246delinsGA	ENSP00000496570.2:p.Asp749=
ENST00000644555.2:c.646+1458_646+1459delinsGA	ENSP00000494614.2:n.646+1458_646+1459delinsGA
ENST00000652672.2:c.2104_2105delinsGA	ENSP00000498906.2:p.Asp702=
ENST00000484087.6:c.664+1458_664+1459delinsGA	ENSP00000419481.2:n.664+1458_664+1459delinsGA
ENST00000700182.1:c.706+1458_706+1459delinsGA	ENSP00000514849.1:n.706+1458_706+1459delinsGA
ENST00000357654.9:c.2245_2246delinsGA MANE Select	ENSP00000350283.3:p.Asp749=
ENST00000471181.7:c.2245_2246delinsGA	ENSP00000418960.2:p.Asp749=
ENST00000352993.7:c.671-2254_671-2253delinsGA	ENSP00000312236.5:n.671-2254_671-2253delinsGA
ENST00000354071.7:c.2245_2246delinsGA	ENSP00000326002.7:p.Asp749=
ENST00000357654.7:c.2245_2246delinsGA	ENSP00000350283.3:p.Asp749=
ENST00000461221.5:c.*2028_*2029delinsGA	ENSP00000418548.1:n.*2028_*2029delinsGA
ENST00000468300.5:c.787+1458_787+1459delinsGA	ENSP00000417148.1:n.787+1458_787+1459delinsGA
ENST00000471181.6:c.2245_2246delinsGA	ENSP00000418960.2:p.Asp749=
ENST00000478531.5:c.784+1458_784+1459delinsGA	ENSP00000420412.1:n.784+1458_784+1459delinsGA
ENST00000484087.5:c.409+1458_409+1459delinsGA	ENSP00000419481.1:n.409+1458_409+1459delinsGA
ENST00000487825.5:c.412+1458_412+1459delinsGA	ENSP00000418212.1:n.412+1458_412+1459delinsGA
ENST00000491747.6:c.787+1458_787+1459delinsGA	ENSP00000420705.2:n.787+1458_787+1459delinsGA
ENST00000493795.5:c.2104_2105delinsGA	ENSP00000418775.1:p.Asp702=
ENST00000493919.5:c.646+1458_646+1459delinsGA	ENSP00000418819.1:n.646+1458_646+1459delinsGA
ENST00000586385.5:c.5-29335_5-29334delinsGA	ENSP00000465818.1:n.5-29335_5-29334delinsGA
ENST00000591534.5:c.-43-18765_-43-18764delinsGA	ENSP00000467329.1:n.-43-18765_-43-18764delinsGA
ENST00000591849.5:c.-99+31985_-99+31986delinsGA	ENSP00000465347.1:n.-99+31985_-99+31986delinsGA
ENST00000634433.1:c.2122_2123delinsGA	ENSP00000489431.1:p.Asp708=
NM_007294.3:c.2245_2246delinsGA , LRG_292t1:c.2245_2246delinsGA	NP_009225.1:p.Asp749=
NM_007297.3:c.2104_2105delinsGA	NP_009228.2:p.Asp702=
NM_007298.3:c.787+1458_787+1459delinsGA	NP_009229.2:n.787+1458_787+1459delinsGA
NM_007299.3:c.787+1458_787+1459delinsGA	NP_009230.2:n.787+1458_787+1459delinsGA
NM_007300.3:c.2245_2246delinsGA	NP_009231.2:p.Asp749=
NR_027676.1:n.2381_2382delinsGA
NM_007294.4:c.2245_2246delinsGA MANE Select	NP_009225.1:p.Asp749=
NM_007297.4:c.2104_2105delinsGA	NP_009228.2:p.Asp702=
NM_007299.4:c.787+1458_787+1459delinsGA	NP_009230.2:n.787+1458_787+1459delinsGA
NM_007300.4:c.2245_2246delinsGA	NP_009231.2:p.Asp749=
NR_027676.2:n.2422_2423delinsGA