Canonical Allele Identifier: CA2260784133
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43093594_43093595delinsCT , CM000679.2:g.43093594_43093595delinsCT GRCh38
NC_000017.10:g.41245611_41245612delinsCT , CM000679.1:g.41245611_41245612delinsCT GRCh37
NC_000017.9:g.38499137_38499138delinsCT NCBI36
NG_005905.2:g.124389_124390delinsAG , LRG_292:g.124389_124390delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.2000_2001delinsAG
ENST00000461574.2:c.1936_1937delinsAG ENSP00000417241.2:p.Ser646=
ENST00000470026.6:c.1936_1937delinsAG ENSP00000419274.2:p.Ser646=
ENST00000473961.6:c.1810_1811delinsAG ENSP00000420201.2:p.Ser604=
ENST00000476777.6:c.1933_1934delinsAG ENSP00000417554.2:p.Ser645=
ENST00000477152.6:c.1858_1859delinsAG ENSP00000419988.2:p.Ser620=
ENST00000478531.6:c.784+1149_784+1150delinsAG ENSP00000420412.2:n.784+1149_784+1150delinsAG
ENST00000489037.2:c.1858_1859delinsAG ENSP00000420781.2:p.Ser620=
ENST00000493919.6:c.646+1149_646+1150delinsAG ENSP00000418819.2:n.646+1149_646+1150delinsAG
ENST00000494123.6:c.1936_1937delinsAG ENSP00000419103.2:p.Ser646=
ENST00000497488.2:c.1048_1049delinsAG ENSP00000418986.2:p.Ser350=
ENST00000618469.2:c.1936_1937delinsAG ENSP00000478114.2:p.Ser646=
ENST00000634433.2:c.1813_1814delinsAG ENSP00000489431.2:p.Ser605=
ENST00000644379.2:c.1936_1937delinsAG ENSP00000496570.2:p.Ser646=
ENST00000644555.2:c.646+1149_646+1150delinsAG ENSP00000494614.2:n.646+1149_646+1150delinsAG
ENST00000652672.2:c.1795_1796delinsAG ENSP00000498906.2:p.Ser599=
ENST00000484087.6:c.664+1149_664+1150delinsAG ENSP00000419481.2:n.664+1149_664+1150delinsAG
ENST00000700182.1:c.706+1149_706+1150delinsAG ENSP00000514849.1:n.706+1149_706+1150delinsAG
ENST00000357654.9:c.1936_1937delinsAG MANE Select ENSP00000350283.3:p.Ser646=
ENST00000471181.7:c.1936_1937delinsAG ENSP00000418960.2:p.Ser646=
ENST00000652672.1:c.1795_1796delinsAG ENSP00000498906.1:p.Ser599=
ENST00000352993.7:c.670+2251_670+2252delinsAG ENSP00000312236.5:n.670+2251_670+2252delinsAG
ENST00000354071.7:c.1936_1937delinsAG ENSP00000326002.7:p.Ser646=
ENST00000357654.7:c.1936_1937delinsAG ENSP00000350283.3:p.Ser646=
ENST00000412061.3:c.1287_1288delinsAG
ENST00000461221.5:c.*1719_*1720delinsAG ENSP00000418548.1:n.*1719_*1720delinsAG
ENST00000468300.5:c.787+1149_787+1150delinsAG ENSP00000417148.1:n.787+1149_787+1150delinsAG
ENST00000470026.5:c.1936_1937delinsAG ENSP00000419274.1:p.Ser646=
ENST00000471181.6:c.1936_1937delinsAG ENSP00000418960.2:p.Ser646=
ENST00000477152.5:c.1858_1859delinsAG ENSP00000419988.1:p.Ser620=
ENST00000478531.5:c.784+1149_784+1150delinsAG ENSP00000420412.1:n.784+1149_784+1150delinsAG
ENST00000484087.5:c.409+1149_409+1150delinsAG ENSP00000419481.1:n.409+1149_409+1150delinsAG
ENST00000487825.5:c.412+1149_412+1150delinsAG ENSP00000418212.1:n.412+1149_412+1150delinsAG
ENST00000491747.6:c.787+1149_787+1150delinsAG ENSP00000420705.2:n.787+1149_787+1150delinsAG
ENST00000493795.5:c.1795_1796delinsAG ENSP00000418775.1:p.Ser599=
ENST00000493919.5:c.646+1149_646+1150delinsAG ENSP00000418819.1:n.646+1149_646+1150delinsAG
ENST00000586385.5:c.5-29644_5-29643delinsAG ENSP00000465818.1:n.5-29644_5-29643delinsAG
ENST00000591534.5:c.-43-19074_-43-19073delinsAG ENSP00000467329.1:n.-43-19074_-43-19073delinsAG
ENST00000591849.5:c.-99+31676_-99+31677delinsAG ENSP00000465347.1:n.-99+31676_-99+31677delinsAG
ENST00000634433.1:c.1813_1814delinsAG ENSP00000489431.1:p.Ser605=
NM_007294.3:c.1936_1937delinsAG , LRG_292t1:c.1936_1937delinsAG NP_009225.1:p.Ser646=
NM_007297.3:c.1795_1796delinsAG NP_009228.2:p.Ser599=
NM_007298.3:c.787+1149_787+1150delinsAG NP_009229.2:n.787+1149_787+1150delinsAG
NM_007299.3:c.787+1149_787+1150delinsAG NP_009230.2:n.787+1149_787+1150delinsAG
NM_007300.3:c.1936_1937delinsAG NP_009231.2:p.Ser646=
NR_027676.1:n.2072_2073delinsAG
NM_007294.4:c.1936_1937delinsAG MANE Select NP_009225.1:p.Ser646=
NM_007297.4:c.1795_1796delinsAG NP_009228.2:p.Ser599=
NM_007299.4:c.787+1149_787+1150delinsAG NP_009230.2:n.787+1149_787+1150delinsAG
NM_007300.4:c.1936_1937delinsAG NP_009231.2:p.Ser646=
NR_027676.2:n.2113_2114delinsAG