Canonical Allele Identifier: CA2260784339

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093786_43093787delinsGT , CM000679.2:g.43093786_43093787delinsGT	GRCh38
NC_000017.10:g.41245803_41245804delinsGT , CM000679.1:g.41245803_41245804delinsGT	GRCh37
NC_000017.9:g.38499329_38499330delinsGT	NCBI36
NG_005905.2:g.124197_124198delinsAC , LRG_292:g.124197_124198delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1808_1809delinsAC
ENST00000461574.2:c.1744_1745delinsAC	ENSP00000417241.2:p.Thr582=
ENST00000470026.6:c.1744_1745delinsAC	ENSP00000419274.2:p.Thr582=
ENST00000473961.6:c.1618_1619delinsAC	ENSP00000420201.2:p.Thr540=
ENST00000476777.6:c.1741_1742delinsAC	ENSP00000417554.2:p.Thr581=
ENST00000477152.6:c.1666_1667delinsAC	ENSP00000419988.2:p.Thr556=
ENST00000478531.6:c.784+957_784+958delinsAC	ENSP00000420412.2:n.784+957_784+958delinsAC
ENST00000489037.2:c.1666_1667delinsAC	ENSP00000420781.2:p.Thr556=
ENST00000493919.6:c.646+957_646+958delinsAC	ENSP00000418819.2:n.646+957_646+958delinsAC
ENST00000494123.6:c.1744_1745delinsAC	ENSP00000419103.2:p.Thr582=
ENST00000497488.2:c.856_857delinsAC	ENSP00000418986.2:p.Thr286=
ENST00000618469.2:c.1744_1745delinsAC	ENSP00000478114.2:p.Thr582=
ENST00000634433.2:c.1621_1622delinsAC	ENSP00000489431.2:p.Thr541=
ENST00000644379.2:c.1744_1745delinsAC	ENSP00000496570.2:p.Thr582=
ENST00000644555.2:c.646+957_646+958delinsAC	ENSP00000494614.2:n.646+957_646+958delinsAC
ENST00000652672.2:c.1603_1604delinsAC	ENSP00000498906.2:p.Thr535=
ENST00000484087.6:c.664+957_664+958delinsAC	ENSP00000419481.2:n.664+957_664+958delinsAC
ENST00000700182.1:c.706+957_706+958delinsAC	ENSP00000514849.1:n.706+957_706+958delinsAC
ENST00000357654.9:c.1744_1745delinsAC MANE Select	ENSP00000350283.3:p.Thr582=
ENST00000471181.7:c.1744_1745delinsAC	ENSP00000418960.2:p.Thr582=
ENST00000652672.1:c.1603_1604delinsAC	ENSP00000498906.1:p.Thr535=
ENST00000352993.7:c.670+2059_670+2060delinsAC	ENSP00000312236.5:n.670+2059_670+2060delinsAC
ENST00000354071.7:c.1744_1745delinsAC	ENSP00000326002.7:p.Thr582=
ENST00000357654.7:c.1744_1745delinsAC	ENSP00000350283.3:p.Thr582=
ENST00000412061.3:c.1095_1096delinsAC
ENST00000461221.5:c.*1527_*1528delinsAC	ENSP00000418548.1:n.*1527_*1528delinsAC
ENST00000468300.5:c.787+957_787+958delinsAC	ENSP00000417148.1:n.787+957_787+958delinsAC
ENST00000470026.5:c.1744_1745delinsAC	ENSP00000419274.1:p.Thr582=
ENST00000471181.6:c.1744_1745delinsAC	ENSP00000418960.2:p.Thr582=
ENST00000477152.5:c.1666_1667delinsAC	ENSP00000419988.1:p.Thr556=
ENST00000478531.5:c.784+957_784+958delinsAC	ENSP00000420412.1:n.784+957_784+958delinsAC
ENST00000484087.5:c.409+957_409+958delinsAC	ENSP00000419481.1:n.409+957_409+958delinsAC
ENST00000487825.5:c.412+957_412+958delinsAC	ENSP00000418212.1:n.412+957_412+958delinsAC
ENST00000491747.6:c.787+957_787+958delinsAC	ENSP00000420705.2:n.787+957_787+958delinsAC
ENST00000493795.5:c.1603_1604delinsAC	ENSP00000418775.1:p.Thr535=
ENST00000493919.5:c.646+957_646+958delinsAC	ENSP00000418819.1:n.646+957_646+958delinsAC
ENST00000586385.5:c.5-29836_5-29835delinsAC	ENSP00000465818.1:n.5-29836_5-29835delinsAC
ENST00000591534.5:c.-43-19266_-43-19265delinsAC	ENSP00000467329.1:n.-43-19266_-43-19265delinsAC
ENST00000591849.5:c.-99+31484_-99+31485delinsAC	ENSP00000465347.1:n.-99+31484_-99+31485delinsAC
ENST00000634433.1:c.1621_1622delinsAC	ENSP00000489431.1:p.Thr541=
NM_007294.3:c.1744_1745delinsAC , LRG_292t1:c.1744_1745delinsAC	NP_009225.1:p.Thr582=
NM_007297.3:c.1603_1604delinsAC	NP_009228.2:p.Thr535=
NM_007298.3:c.787+957_787+958delinsAC	NP_009229.2:n.787+957_787+958delinsAC
NM_007299.3:c.787+957_787+958delinsAC	NP_009230.2:n.787+957_787+958delinsAC
NM_007300.3:c.1744_1745delinsAC	NP_009231.2:p.Thr582=
NR_027676.1:n.1880_1881delinsAC
NM_007294.4:c.1744_1745delinsAC MANE Select	NP_009225.1:p.Thr582=
NM_007297.4:c.1603_1604delinsAC	NP_009228.2:p.Thr535=
NM_007299.4:c.787+957_787+958delinsAC	NP_009230.2:n.787+957_787+958delinsAC
NM_007300.4:c.1744_1745delinsAC	NP_009231.2:p.Thr582=
NR_027676.2:n.1921_1922delinsAC