Canonical Allele Identifier: CA2260784317

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093773_43093774delinsAG , CM000679.2:g.43093773_43093774delinsAG	GRCh38
NC_000017.10:g.41245790_41245791delinsAG , CM000679.1:g.41245790_41245791delinsAG	GRCh37
NC_000017.9:g.38499316_38499317delinsAG	NCBI36
NG_005905.2:g.124210_124211delinsCT , LRG_292:g.124210_124211delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1821_1822delinsCT
ENST00000461574.2:c.1757_1758delinsCT	ENSP00000417241.2:p.Pro586=
ENST00000470026.6:c.1757_1758delinsCT	ENSP00000419274.2:p.Pro586=
ENST00000473961.6:c.1631_1632delinsCT	ENSP00000420201.2:p.Pro544=
ENST00000476777.6:c.1754_1755delinsCT	ENSP00000417554.2:p.Pro585=
ENST00000477152.6:c.1679_1680delinsCT	ENSP00000419988.2:p.Pro560=
ENST00000478531.6:c.784+970_784+971delinsCT	ENSP00000420412.2:n.784+970_784+971delinsCT
ENST00000489037.2:c.1679_1680delinsCT	ENSP00000420781.2:p.Pro560=
ENST00000493919.6:c.646+970_646+971delinsCT	ENSP00000418819.2:n.646+970_646+971delinsCT
ENST00000494123.6:c.1757_1758delinsCT	ENSP00000419103.2:p.Pro586=
ENST00000497488.2:c.869_870delinsCT	ENSP00000418986.2:p.Pro290=
ENST00000618469.2:c.1757_1758delinsCT	ENSP00000478114.2:p.Pro586=
ENST00000634433.2:c.1634_1635delinsCT	ENSP00000489431.2:p.Pro545=
ENST00000644379.2:c.1757_1758delinsCT	ENSP00000496570.2:p.Pro586=
ENST00000644555.2:c.646+970_646+971delinsCT	ENSP00000494614.2:n.646+970_646+971delinsCT
ENST00000652672.2:c.1616_1617delinsCT	ENSP00000498906.2:p.Pro539=
ENST00000484087.6:c.664+970_664+971delinsCT	ENSP00000419481.2:n.664+970_664+971delinsCT
ENST00000700182.1:c.706+970_706+971delinsCT	ENSP00000514849.1:n.706+970_706+971delinsCT
ENST00000357654.9:c.1757_1758delinsCT MANE Select	ENSP00000350283.3:p.Pro586=
ENST00000471181.7:c.1757_1758delinsCT	ENSP00000418960.2:p.Pro586=
ENST00000652672.1:c.1616_1617delinsCT	ENSP00000498906.1:p.Pro539=
ENST00000352993.7:c.670+2072_670+2073delinsCT	ENSP00000312236.5:n.670+2072_670+2073delinsCT
ENST00000354071.7:c.1757_1758delinsCT	ENSP00000326002.7:p.Pro586=
ENST00000357654.7:c.1757_1758delinsCT	ENSP00000350283.3:p.Pro586=
ENST00000412061.3:c.1108_1109delinsCT
ENST00000461221.5:c.*1540_*1541delinsCT	ENSP00000418548.1:n.*1540_*1541delinsCT
ENST00000468300.5:c.787+970_787+971delinsCT	ENSP00000417148.1:n.787+970_787+971delinsCT
ENST00000470026.5:c.1757_1758delinsCT	ENSP00000419274.1:p.Pro586=
ENST00000471181.6:c.1757_1758delinsCT	ENSP00000418960.2:p.Pro586=
ENST00000477152.5:c.1679_1680delinsCT	ENSP00000419988.1:p.Pro560=
ENST00000478531.5:c.784+970_784+971delinsCT	ENSP00000420412.1:n.784+970_784+971delinsCT
ENST00000484087.5:c.409+970_409+971delinsCT	ENSP00000419481.1:n.409+970_409+971delinsCT
ENST00000487825.5:c.412+970_412+971delinsCT	ENSP00000418212.1:n.412+970_412+971delinsCT
ENST00000491747.6:c.787+970_787+971delinsCT	ENSP00000420705.2:n.787+970_787+971delinsCT
ENST00000493795.5:c.1616_1617delinsCT	ENSP00000418775.1:p.Pro539=
ENST00000493919.5:c.646+970_646+971delinsCT	ENSP00000418819.1:n.646+970_646+971delinsCT
ENST00000586385.5:c.5-29823_5-29822delinsCT	ENSP00000465818.1:n.5-29823_5-29822delinsCT
ENST00000591534.5:c.-43-19253_-43-19252delinsCT	ENSP00000467329.1:n.-43-19253_-43-19252delinsCT
ENST00000591849.5:c.-99+31497_-99+31498delinsCT	ENSP00000465347.1:n.-99+31497_-99+31498delinsCT
ENST00000634433.1:c.1634_1635delinsCT	ENSP00000489431.1:p.Pro545=
NM_007294.3:c.1757_1758delinsCT , LRG_292t1:c.1757_1758delinsCT	NP_009225.1:p.Pro586=
NM_007297.3:c.1616_1617delinsCT	NP_009228.2:p.Pro539=
NM_007298.3:c.787+970_787+971delinsCT	NP_009229.2:n.787+970_787+971delinsCT
NM_007299.3:c.787+970_787+971delinsCT	NP_009230.2:n.787+970_787+971delinsCT
NM_007300.3:c.1757_1758delinsCT	NP_009231.2:p.Pro586=
NR_027676.1:n.1893_1894delinsCT
NM_007294.4:c.1757_1758delinsCT MANE Select	NP_009225.1:p.Pro586=
NM_007297.4:c.1616_1617delinsCT	NP_009228.2:p.Pro539=
NM_007299.4:c.787+970_787+971delinsCT	NP_009230.2:n.787+970_787+971delinsCT
NM_007300.4:c.1757_1758delinsCT	NP_009231.2:p.Pro586=
NR_027676.2:n.1934_1935delinsCT