Canonical Allele Identifier: CA001293
Gene: BRCA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43093578_43093581del , CM000679.2:g.43093578_43093581del GRCh38
NC_000017.10:g.41245595_41245598del , CM000679.1:g.41245595_41245598del GRCh37
NC_000017.9:g.38499121_38499124del NCBI36
NG_005905.2:g.124406_124409del , LRG_292:g.124406_124409del

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.2017_2020del
ENST00000461574.2:c.1953_1956del ENSP00000417241.2:p.Lys653SerfsTer?
ENST00000470026.6:c.1953_1956del ENSP00000419274.2:p.Lys653SerfsTer?
ENST00000473961.6:c.1827_1830del ENSP00000420201.2:p.Lys611SerfsTer?
ENST00000476777.6:c.1950_1953del ENSP00000417554.2:p.Lys652SerfsTer?
ENST00000477152.6:c.1875_1878del ENSP00000419988.2:p.Lys627SerfsTer?
ENST00000478531.6:c.784+1166_784+1169del ENSP00000420412.2:n.784+1166_784+1169del
ENST00000489037.2:c.1875_1878del ENSP00000420781.2:p.Lys627SerfsTer?
ENST00000493919.6:c.646+1166_646+1169del ENSP00000418819.2:n.646+1166_646+1169del
ENST00000494123.6:c.1953_1956del ENSP00000419103.2:p.Lys653SerfsTer?
ENST00000497488.2:c.1065_1068del ENSP00000418986.2:p.Lys357SerfsTer?
ENST00000618469.2:c.1953_1956del ENSP00000478114.2:p.Lys653SerfsTer?
ENST00000634433.2:c.1830_1833del ENSP00000489431.2:p.Lys612SerfsTer?
ENST00000644379.2:c.1953_1956del ENSP00000496570.2:p.Lys653SerfsTer?
ENST00000644555.2:c.646+1166_646+1169del ENSP00000494614.2:n.646+1166_646+1169del
ENST00000652672.2:c.1812_1815del ENSP00000498906.2:p.Lys606SerfsTer?
ENST00000484087.6:c.664+1166_664+1169del ENSP00000419481.2:n.664+1166_664+1169del
ENST00000700182.1:c.706+1166_706+1169del ENSP00000514849.1:n.706+1166_706+1169del
ENST00000357654.9:c.1953_1956del MANE Select ENSP00000350283.3:p.Lys653SerfsTer?
ENST00000471181.7:c.1953_1956del ENSP00000418960.2:p.Lys653SerfsTer?
ENST00000352993.7:c.670+2268_670+2271del ENSP00000312236.5:n.670+2268_670+2271del
ENST00000354071.7:c.1953_1956del ENSP00000326002.7:p.Lys653SerfsTer?
ENST00000357654.7:c.1953_1956del ENSP00000350283.3:p.Lys653SerfsTer?
ENST00000412061.3:c.1304_1307del
ENST00000461221.5:c.*1736_*1739del ENSP00000418548.1:n.*1736_*1739del
ENST00000468300.5:c.787+1166_787+1169del ENSP00000417148.1:n.787+1166_787+1169del
ENST00000471181.6:c.1953_1956del ENSP00000418960.2:p.Lys653SerfsTer?
ENST00000478531.5:c.784+1166_784+1169del ENSP00000420412.1:n.784+1166_784+1169del
ENST00000484087.5:c.409+1166_409+1169del ENSP00000419481.1:n.409+1166_409+1169del
ENST00000487825.5:c.412+1166_412+1169del ENSP00000418212.1:n.412+1166_412+1169del
ENST00000491747.6:c.787+1166_787+1169del ENSP00000420705.2:n.787+1166_787+1169del
ENST00000493795.5:c.1812_1815del ENSP00000418775.1:p.Lys606SerfsTer?
ENST00000493919.5:c.646+1166_646+1169del ENSP00000418819.1:n.646+1166_646+1169del
ENST00000586385.5:c.5-29627_5-29624del ENSP00000465818.1:n.5-29627_5-29624del
ENST00000591534.5:c.-43-19057_-43-19054del ENSP00000467329.1:n.-43-19057_-43-19054del
ENST00000591849.5:c.-99+31693_-99+31696del ENSP00000465347.1:n.-99+31693_-99+31696del
ENST00000634433.1:c.1830_1833del ENSP00000489431.1:p.Lys612SerfsTer?
NM_007294.3:c.1953_1956del , LRG_292t1:c.1953_1956del NP_009225.1:p.Lys653SerfsTer?
NM_007297.3:c.1812_1815del NP_009228.2:p.Lys606SerfsTer?
NM_007298.3:c.787+1166_787+1169del NP_009229.2:n.787+1166_787+1169del
NM_007299.3:c.787+1166_787+1169del NP_009230.2:n.787+1166_787+1169del
NM_007300.3:c.1953_1956del NP_009231.2:p.Lys653SerfsTer?
NR_027676.1:n.2089_2092del
NM_007294.4:c.1953_1956del MANE Select NP_009225.1:p.Lys653SerfsTer?
NM_007297.4:c.1812_1815del NP_009228.2:p.Lys606SerfsTer?
NM_007299.4:c.787+1166_787+1169del NP_009230.2:n.787+1166_787+1169del
NM_007300.4:c.1953_1956del NP_009231.2:p.Lys653SerfsTer?
NR_027676.2:n.2130_2133del
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