Canonical Allele Identifier: CA645578307
Gene: BRCA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43093316_43093317dup , CM000679.2:g.43093316_43093317dup GRCh38
NC_000017.10:g.41245333_41245334dup , CM000679.1:g.41245333_41245334dup GRCh37
NC_000017.9:g.38498859_38498860dup NCBI36
NG_005905.2:g.124667_124668dup , LRG_292:g.124667_124668dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.2278_2279dup
ENST00000461574.2:c.2214_2215dup ENSP00000417241.2:p.Lys739IlefsTer15
ENST00000470026.6:c.2214_2215dup ENSP00000419274.2:p.Lys739IlefsTer15
ENST00000473961.6:c.2088_2089dup ENSP00000420201.2:p.Lys697IlefsTer15
ENST00000476777.6:c.2211_2212dup ENSP00000417554.2:p.Lys738IlefsTer15
ENST00000477152.6:c.2136_2137dup ENSP00000419988.2:p.Lys713IlefsTer15
ENST00000478531.6:c.784+1427_784+1428dup ENSP00000420412.2:n.784+1427_784+1428dup
ENST00000489037.2:c.2136_2137dup ENSP00000420781.2:p.Lys713IlefsTer15
ENST00000493919.6:c.646+1427_646+1428dup ENSP00000418819.2:n.646+1427_646+1428dup
ENST00000494123.6:c.2214_2215dup ENSP00000419103.2:p.Lys739IlefsTer15
ENST00000497488.2:c.1326_1327dup ENSP00000418986.2:p.Lys443IlefsTer15
ENST00000618469.2:c.2214_2215dup ENSP00000478114.2:p.Lys739IlefsTer15
ENST00000634433.2:c.2091_2092dup ENSP00000489431.2:p.Lys698IlefsTer15
ENST00000644379.2:c.2214_2215dup ENSP00000496570.2:p.Lys739IlefsTer15
ENST00000644555.2:c.646+1427_646+1428dup ENSP00000494614.2:n.646+1427_646+1428dup
ENST00000652672.2:c.2073_2074dup ENSP00000498906.2:p.Lys692IlefsTer15
ENST00000484087.6:c.664+1427_664+1428dup ENSP00000419481.2:n.664+1427_664+1428dup
ENST00000700182.1:c.706+1427_706+1428dup ENSP00000514849.1:n.706+1427_706+1428dup
ENST00000357654.9:c.2214_2215dup MANE Select ENSP00000350283.3:p.Lys739IlefsTer15
ENST00000471181.7:c.2214_2215dup ENSP00000418960.2:p.Lys739IlefsTer15
ENST00000352993.7:c.671-2285_671-2284dup ENSP00000312236.5:n.671-2285_671-2284dup
ENST00000354071.7:c.2214_2215dup ENSP00000326002.7:p.Lys739IlefsTer15
ENST00000357654.7:c.2214_2215dup ENSP00000350283.3:p.Lys739IlefsTer15
ENST00000461221.5:c.*1997_*1998dup ENSP00000418548.1:n.*1997_*1998dup
ENST00000468300.5:c.787+1427_787+1428dup ENSP00000417148.1:n.787+1427_787+1428dup
ENST00000471181.6:c.2214_2215dup ENSP00000418960.2:p.Lys739IlefsTer15
ENST00000478531.5:c.784+1427_784+1428dup ENSP00000420412.1:n.784+1427_784+1428dup
ENST00000484087.5:c.409+1427_409+1428dup ENSP00000419481.1:n.409+1427_409+1428dup
ENST00000487825.5:c.412+1427_412+1428dup ENSP00000418212.1:n.412+1427_412+1428dup
ENST00000491747.6:c.787+1427_787+1428dup ENSP00000420705.2:n.787+1427_787+1428dup
ENST00000493795.5:c.2073_2074dup ENSP00000418775.1:p.Lys692IlefsTer15
ENST00000493919.5:c.646+1427_646+1428dup ENSP00000418819.1:n.646+1427_646+1428dup
ENST00000586385.5:c.5-29366_5-29365dup ENSP00000465818.1:n.5-29366_5-29365dup
ENST00000591534.5:c.-43-18796_-43-18795dup ENSP00000467329.1:n.-43-18796_-43-18795dup
ENST00000591849.5:c.-99+31954_-99+31955dup ENSP00000465347.1:n.-99+31954_-99+31955dup
ENST00000634433.1:c.2091_2092dup ENSP00000489431.1:p.Lys698IlefsTer15
NM_007294.3:c.2214_2215dup , LRG_292t1:c.2214_2215dup NP_009225.1:p.Lys739IlefsTer15
NM_007297.3:c.2073_2074dup NP_009228.2:p.Lys692IlefsTer15
NM_007298.3:c.787+1427_787+1428dup NP_009229.2:n.787+1427_787+1428dup
NM_007299.3:c.787+1427_787+1428dup NP_009230.2:n.787+1427_787+1428dup
NM_007300.3:c.2214_2215dup NP_009231.2:p.Lys739IlefsTer15
NR_027676.1:n.2350_2351dup
NM_007294.4:c.2214_2215dup MANE Select NP_009225.1:p.Lys739IlefsTer15
NM_007297.4:c.2073_2074dup NP_009228.2:p.Lys692IlefsTer15
NM_007299.4:c.787+1427_787+1428dup NP_009230.2:n.787+1427_787+1428dup
NM_007300.4:c.2214_2215dup NP_009231.2:p.Lys739IlefsTer15
NR_027676.2:n.2391_2392dup