Canonical Allele Identifier: CA3060585980
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43093220_43093222delinsGTC , CM000679.2:g.43093220_43093222delinsGTC GRCh38
NC_000017.10:g.41245237_41245239delinsGTC , CM000679.1:g.41245237_41245239delinsGTC GRCh37
NC_000017.9:g.38498763_38498765delinsGTC NCBI36
NG_005905.2:g.124762_124764delinsGAC , LRG_292:g.124762_124764delinsGAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.2373_2375delinsGAC
ENST00000461574.2:c.2309_2311delinsGAC ENSP00000417241.2:p.Ser770Ter
ENST00000470026.6:c.2309_2311delinsGAC ENSP00000419274.2:p.Ser770Ter
ENST00000473961.6:c.2183_2185delinsGAC ENSP00000420201.2:p.Ser728Ter
ENST00000476777.6:c.2306_2308delinsGAC ENSP00000417554.2:p.Ser769Ter
ENST00000477152.6:c.2231_2233delinsGAC ENSP00000419988.2:p.Ser744Ter
ENST00000478531.6:c.784+1522_784+1524delinsGAC ENSP00000420412.2:n.784+1522_784+1524delinsGAC
ENST00000489037.2:c.2231_2233delinsGAC ENSP00000420781.2:p.Ser744Ter
ENST00000493919.6:c.646+1522_646+1524delinsGAC ENSP00000418819.2:n.646+1522_646+1524delinsGAC
ENST00000494123.6:c.2309_2311delinsGAC ENSP00000419103.2:p.Ser770Ter
ENST00000497488.2:c.1421_1423delinsGAC ENSP00000418986.2:p.Ser474Ter
ENST00000618469.2:c.2309_2311delinsGAC ENSP00000478114.2:p.Ser770Ter
ENST00000634433.2:c.2186_2188delinsGAC ENSP00000489431.2:p.Ser729Ter
ENST00000644379.2:c.2309_2311delinsGAC ENSP00000496570.2:p.Ser770Ter
ENST00000644555.2:c.646+1522_646+1524delinsGAC ENSP00000494614.2:n.646+1522_646+1524delinsGAC
ENST00000652672.2:c.2168_2170delinsGAC ENSP00000498906.2:p.Ser723Ter
ENST00000484087.6:c.664+1522_664+1524delinsGAC ENSP00000419481.2:n.664+1522_664+1524delinsGAC
ENST00000700182.1:c.706+1522_706+1524delinsGAC ENSP00000514849.1:n.706+1522_706+1524delinsGAC
ENST00000357654.9:c.2309_2311delinsGAC MANE Select ENSP00000350283.3:p.Ser770Ter
ENST00000471181.7:c.2309_2311delinsGAC ENSP00000418960.2:p.Ser770Ter
ENST00000352993.7:c.671-2190_671-2188delinsGAC ENSP00000312236.5:n.671-2190_671-2188delinsGAC
ENST00000354071.7:c.2309_2311delinsGAC ENSP00000326002.7:p.Ser770Ter
ENST00000357654.7:c.2309_2311delinsGAC ENSP00000350283.3:p.Ser770Ter
ENST00000461221.5:c.*2092_*2094delinsGAC ENSP00000418548.1:n.*2092_*2094delinsGAC
ENST00000468300.5:c.787+1522_787+1524delinsGAC ENSP00000417148.1:n.787+1522_787+1524delinsGAC
ENST00000471181.6:c.2309_2311delinsGAC ENSP00000418960.2:p.Ser770Ter
ENST00000478531.5:c.784+1522_784+1524delinsGAC ENSP00000420412.1:n.784+1522_784+1524delinsGAC
ENST00000484087.5:c.409+1522_409+1524delinsGAC ENSP00000419481.1:n.409+1522_409+1524delinsGAC
ENST00000487825.5:c.412+1522_412+1524delinsGAC ENSP00000418212.1:n.412+1522_412+1524delinsGAC
ENST00000491747.6:c.787+1522_787+1524delinsGAC ENSP00000420705.2:n.787+1522_787+1524delinsGAC
ENST00000493795.5:c.2168_2170delinsGAC ENSP00000418775.1:p.Ser723Ter
ENST00000493919.5:c.646+1522_646+1524delinsGAC ENSP00000418819.1:n.646+1522_646+1524delinsGAC
ENST00000586385.5:c.5-29271_5-29269delinsGAC ENSP00000465818.1:n.5-29271_5-29269delinsGAC
ENST00000591534.5:c.-43-18701_-43-18699delinsGAC ENSP00000467329.1:n.-43-18701_-43-18699delinsGAC
ENST00000591849.5:c.-99+32049_-99+32051delinsGAC ENSP00000465347.1:n.-99+32049_-99+32051delinsGAC
ENST00000634433.1:c.2186_2188delinsGAC ENSP00000489431.1:p.Ser729Ter
NM_007294.3:c.2309_2311delinsGAC , LRG_292t1:c.2309_2311delinsGAC NP_009225.1:p.Ser770Ter
NM_007297.3:c.2168_2170delinsGAC NP_009228.2:p.Ser723Ter
NM_007298.3:c.787+1522_787+1524delinsGAC NP_009229.2:n.787+1522_787+1524delinsGAC
NM_007299.3:c.787+1522_787+1524delinsGAC NP_009230.2:n.787+1522_787+1524delinsGAC
NM_007300.3:c.2309_2311delinsGAC NP_009231.2:p.Ser770Ter
NR_027676.1:n.2445_2447delinsGAC
NM_007294.4:c.2309_2311delinsGAC MANE Select NP_009225.1:p.Ser770Ter
NM_007297.4:c.2168_2170delinsGAC NP_009228.2:p.Ser723Ter
NM_007299.4:c.787+1522_787+1524delinsGAC NP_009230.2:n.787+1522_787+1524delinsGAC
NM_007300.4:c.2309_2311delinsGAC NP_009231.2:p.Ser770Ter
NR_027676.2:n.2486_2488delinsGAC