Canonical Allele Identifier: CA2260784116

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093577_43093578delinsTC , CM000679.2:g.43093577_43093578delinsTC	GRCh38
NC_000017.10:g.41245594_41245595delinsTC , CM000679.1:g.41245594_41245595delinsTC	GRCh37
NC_000017.9:g.38499120_38499121delinsTC	NCBI36
NG_005905.2:g.124406_124407delinsGA , LRG_292:g.124406_124407delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2017_2018delinsGA
ENST00000461574.2:c.1953_1954delinsGA	ENSP00000417241.2:p.Lys651=
ENST00000470026.6:c.1953_1954delinsGA	ENSP00000419274.2:p.Lys651=
ENST00000473961.6:c.1827_1828delinsGA	ENSP00000420201.2:p.Lys609=
ENST00000476777.6:c.1950_1951delinsGA	ENSP00000417554.2:p.Lys650=
ENST00000477152.6:c.1875_1876delinsGA	ENSP00000419988.2:p.Lys625=
ENST00000478531.6:c.784+1166_784+1167delinsGA	ENSP00000420412.2:n.784+1166_784+1167delinsGA
ENST00000489037.2:c.1875_1876delinsGA	ENSP00000420781.2:p.Lys625=
ENST00000493919.6:c.646+1166_646+1167delinsGA	ENSP00000418819.2:n.646+1166_646+1167delinsGA
ENST00000494123.6:c.1953_1954delinsGA	ENSP00000419103.2:p.Lys651=
ENST00000497488.2:c.1065_1066delinsGA	ENSP00000418986.2:p.Lys355=
ENST00000618469.2:c.1953_1954delinsGA	ENSP00000478114.2:p.Lys651=
ENST00000634433.2:c.1830_1831delinsGA	ENSP00000489431.2:p.Lys610=
ENST00000644379.2:c.1953_1954delinsGA	ENSP00000496570.2:p.Lys651=
ENST00000644555.2:c.646+1166_646+1167delinsGA	ENSP00000494614.2:n.646+1166_646+1167delinsGA
ENST00000652672.2:c.1812_1813delinsGA	ENSP00000498906.2:p.Lys604=
ENST00000484087.6:c.664+1166_664+1167delinsGA	ENSP00000419481.2:n.664+1166_664+1167delinsGA
ENST00000700182.1:c.706+1166_706+1167delinsGA	ENSP00000514849.1:n.706+1166_706+1167delinsGA
ENST00000357654.9:c.1953_1954delinsGA MANE Select	ENSP00000350283.3:p.Lys651=
ENST00000471181.7:c.1953_1954delinsGA	ENSP00000418960.2:p.Lys651=
ENST00000352993.7:c.670+2268_670+2269delinsGA	ENSP00000312236.5:n.670+2268_670+2269delinsGA
ENST00000354071.7:c.1953_1954delinsGA	ENSP00000326002.7:p.Lys651=
ENST00000357654.7:c.1953_1954delinsGA	ENSP00000350283.3:p.Lys651=
ENST00000412061.3:c.1304_1305delinsGA
ENST00000461221.5:c.*1736_*1737delinsGA	ENSP00000418548.1:n.*1736_*1737delinsGA
ENST00000468300.5:c.787+1166_787+1167delinsGA	ENSP00000417148.1:n.787+1166_787+1167delinsGA
ENST00000471181.6:c.1953_1954delinsGA	ENSP00000418960.2:p.Lys651=
ENST00000478531.5:c.784+1166_784+1167delinsGA	ENSP00000420412.1:n.784+1166_784+1167delinsGA
ENST00000484087.5:c.409+1166_409+1167delinsGA	ENSP00000419481.1:n.409+1166_409+1167delinsGA
ENST00000487825.5:c.412+1166_412+1167delinsGA	ENSP00000418212.1:n.412+1166_412+1167delinsGA
ENST00000491747.6:c.787+1166_787+1167delinsGA	ENSP00000420705.2:n.787+1166_787+1167delinsGA
ENST00000493795.5:c.1812_1813delinsGA	ENSP00000418775.1:p.Lys604=
ENST00000493919.5:c.646+1166_646+1167delinsGA	ENSP00000418819.1:n.646+1166_646+1167delinsGA
ENST00000586385.5:c.5-29627_5-29626delinsGA	ENSP00000465818.1:n.5-29627_5-29626delinsGA
ENST00000591534.5:c.-43-19057_-43-19056delinsGA	ENSP00000467329.1:n.-43-19057_-43-19056delinsGA
ENST00000591849.5:c.-99+31693_-99+31694delinsGA	ENSP00000465347.1:n.-99+31693_-99+31694delinsGA
ENST00000634433.1:c.1830_1831delinsGA	ENSP00000489431.1:p.Lys610=
NM_007294.3:c.1953_1954delinsGA , LRG_292t1:c.1953_1954delinsGA	NP_009225.1:p.Lys651=
NM_007297.3:c.1812_1813delinsGA	NP_009228.2:p.Lys604=
NM_007298.3:c.787+1166_787+1167delinsGA	NP_009229.2:n.787+1166_787+1167delinsGA
NM_007299.3:c.787+1166_787+1167delinsGA	NP_009230.2:n.787+1166_787+1167delinsGA
NM_007300.3:c.1953_1954delinsGA	NP_009231.2:p.Lys651=
NR_027676.1:n.2089_2090delinsGA
NM_007294.4:c.1953_1954delinsGA MANE Select	NP_009225.1:p.Lys651=
NM_007297.4:c.1812_1813delinsGA	NP_009228.2:p.Lys604=
NM_007299.4:c.787+1166_787+1167delinsGA	NP_009230.2:n.787+1166_787+1167delinsGA
NM_007300.4:c.1953_1954delinsGA	NP_009231.2:p.Lys651=
NR_027676.2:n.2130_2131delinsGA