Canonical Allele Identifier: CA2260784234

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093693_43093694delinsCT , CM000679.2:g.43093693_43093694delinsCT	GRCh38
NC_000017.10:g.41245710_41245711delinsCT , CM000679.1:g.41245710_41245711delinsCT	GRCh37
NC_000017.9:g.38499236_38499237delinsCT	NCBI36
NG_005905.2:g.124290_124291delinsAG , LRG_292:g.124290_124291delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1901_1902delinsAG
ENST00000461574.2:c.1837_1838delinsAG	ENSP00000417241.2:p.Arg613=
ENST00000470026.6:c.1837_1838delinsAG	ENSP00000419274.2:p.Arg613=
ENST00000473961.6:c.1711_1712delinsAG	ENSP00000420201.2:p.Arg571=
ENST00000476777.6:c.1834_1835delinsAG	ENSP00000417554.2:p.Arg612=
ENST00000477152.6:c.1759_1760delinsAG	ENSP00000419988.2:p.Arg587=
ENST00000478531.6:c.784+1050_784+1051delinsAG	ENSP00000420412.2:n.784+1050_784+1051delinsAG
ENST00000489037.2:c.1759_1760delinsAG	ENSP00000420781.2:p.Arg587=
ENST00000493919.6:c.646+1050_646+1051delinsAG	ENSP00000418819.2:n.646+1050_646+1051delinsAG
ENST00000494123.6:c.1837_1838delinsAG	ENSP00000419103.2:p.Arg613=
ENST00000497488.2:c.949_950delinsAG	ENSP00000418986.2:p.Arg317=
ENST00000618469.2:c.1837_1838delinsAG	ENSP00000478114.2:p.Arg613=
ENST00000634433.2:c.1714_1715delinsAG	ENSP00000489431.2:p.Arg572=
ENST00000644379.2:c.1837_1838delinsAG	ENSP00000496570.2:p.Arg613=
ENST00000644555.2:c.646+1050_646+1051delinsAG	ENSP00000494614.2:n.646+1050_646+1051delinsAG
ENST00000652672.2:c.1696_1697delinsAG	ENSP00000498906.2:p.Arg566=
ENST00000484087.6:c.664+1050_664+1051delinsAG	ENSP00000419481.2:n.664+1050_664+1051delinsAG
ENST00000700182.1:c.706+1050_706+1051delinsAG	ENSP00000514849.1:n.706+1050_706+1051delinsAG
ENST00000357654.9:c.1837_1838delinsAG MANE Select	ENSP00000350283.3:p.Arg613=
ENST00000471181.7:c.1837_1838delinsAG	ENSP00000418960.2:p.Arg613=
ENST00000652672.1:c.1696_1697delinsAG	ENSP00000498906.1:p.Arg566=
ENST00000352993.7:c.670+2152_670+2153delinsAG	ENSP00000312236.5:n.670+2152_670+2153delinsAG
ENST00000354071.7:c.1837_1838delinsAG	ENSP00000326002.7:p.Arg613=
ENST00000357654.7:c.1837_1838delinsAG	ENSP00000350283.3:p.Arg613=
ENST00000412061.3:c.1188_1189delinsAG
ENST00000461221.5:c.*1620_*1621delinsAG	ENSP00000418548.1:n.*1620_*1621delinsAG
ENST00000468300.5:c.787+1050_787+1051delinsAG	ENSP00000417148.1:n.787+1050_787+1051delinsAG
ENST00000470026.5:c.1837_1838delinsAG	ENSP00000419274.1:p.Arg613=
ENST00000471181.6:c.1837_1838delinsAG	ENSP00000418960.2:p.Arg613=
ENST00000477152.5:c.1759_1760delinsAG	ENSP00000419988.1:p.Arg587=
ENST00000478531.5:c.784+1050_784+1051delinsAG	ENSP00000420412.1:n.784+1050_784+1051delinsAG
ENST00000484087.5:c.409+1050_409+1051delinsAG	ENSP00000419481.1:n.409+1050_409+1051delinsAG
ENST00000487825.5:c.412+1050_412+1051delinsAG	ENSP00000418212.1:n.412+1050_412+1051delinsAG
ENST00000491747.6:c.787+1050_787+1051delinsAG	ENSP00000420705.2:n.787+1050_787+1051delinsAG
ENST00000493795.5:c.1696_1697delinsAG	ENSP00000418775.1:p.Arg566=
ENST00000493919.5:c.646+1050_646+1051delinsAG	ENSP00000418819.1:n.646+1050_646+1051delinsAG
ENST00000586385.5:c.5-29743_5-29742delinsAG	ENSP00000465818.1:n.5-29743_5-29742delinsAG
ENST00000591534.5:c.-43-19173_-43-19172delinsAG	ENSP00000467329.1:n.-43-19173_-43-19172delinsAG
ENST00000591849.5:c.-99+31577_-99+31578delinsAG	ENSP00000465347.1:n.-99+31577_-99+31578delinsAG
ENST00000634433.1:c.1714_1715delinsAG	ENSP00000489431.1:p.Arg572=
NM_007294.3:c.1837_1838delinsAG , LRG_292t1:c.1837_1838delinsAG	NP_009225.1:p.Arg613=
NM_007297.3:c.1696_1697delinsAG	NP_009228.2:p.Arg566=
NM_007298.3:c.787+1050_787+1051delinsAG	NP_009229.2:n.787+1050_787+1051delinsAG
NM_007299.3:c.787+1050_787+1051delinsAG	NP_009230.2:n.787+1050_787+1051delinsAG
NM_007300.3:c.1837_1838delinsAG	NP_009231.2:p.Arg613=
NR_027676.1:n.1973_1974delinsAG
NM_007294.4:c.1837_1838delinsAG MANE Select	NP_009225.1:p.Arg613=
NM_007297.4:c.1696_1697delinsAG	NP_009228.2:p.Arg566=
NM_007299.4:c.787+1050_787+1051delinsAG	NP_009230.2:n.787+1050_787+1051delinsAG
NM_007300.4:c.1837_1838delinsAG	NP_009231.2:p.Arg613=
NR_027676.2:n.2014_2015delinsAG