Canonical Allele Identifier: CA2260784261

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093725_43093726delinsAT , CM000679.2:g.43093725_43093726delinsAT	GRCh38
NC_000017.10:g.41245742_41245743delinsAT , CM000679.1:g.41245742_41245743delinsAT	GRCh37
NC_000017.9:g.38499268_38499269delinsAT	NCBI36
NG_005905.2:g.124258_124259delinsAT , LRG_292:g.124258_124259delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.1869_1870delinsAT
ENST00000461574.2:c.1805_1806delinsAT	ENSP00000417241.2:p.Asn602=
ENST00000470026.6:c.1805_1806delinsAT	ENSP00000419274.2:p.Asn602=
ENST00000473961.6:c.1679_1680delinsAT	ENSP00000420201.2:p.Asn560=
ENST00000476777.6:c.1802_1803delinsAT	ENSP00000417554.2:p.Asn601=
ENST00000477152.6:c.1727_1728delinsAT	ENSP00000419988.2:p.Asn576=
ENST00000478531.6:c.784+1018_784+1019delinsAT	ENSP00000420412.2:n.784+1018_784+1019delinsAT
ENST00000489037.2:c.1727_1728delinsAT	ENSP00000420781.2:p.Asn576=
ENST00000493919.6:c.646+1018_646+1019delinsAT	ENSP00000418819.2:n.646+1018_646+1019delinsAT
ENST00000494123.6:c.1805_1806delinsAT	ENSP00000419103.2:p.Asn602=
ENST00000497488.2:c.917_918delinsAT	ENSP00000418986.2:p.Asn306=
ENST00000618469.2:c.1805_1806delinsAT	ENSP00000478114.2:p.Asn602=
ENST00000634433.2:c.1682_1683delinsAT	ENSP00000489431.2:p.Asn561=
ENST00000644379.2:c.1805_1806delinsAT	ENSP00000496570.2:p.Asn602=
ENST00000644555.2:c.646+1018_646+1019delinsAT	ENSP00000494614.2:n.646+1018_646+1019delinsAT
ENST00000652672.2:c.1664_1665delinsAT	ENSP00000498906.2:p.Asn555=
ENST00000484087.6:c.664+1018_664+1019delinsAT	ENSP00000419481.2:n.664+1018_664+1019delinsAT
ENST00000700182.1:c.706+1018_706+1019delinsAT	ENSP00000514849.1:n.706+1018_706+1019delinsAT
ENST00000357654.9:c.1805_1806delinsAT MANE Select	ENSP00000350283.3:p.Asn602=
ENST00000471181.7:c.1805_1806delinsAT	ENSP00000418960.2:p.Asn602=
ENST00000652672.1:c.1664_1665delinsAT	ENSP00000498906.1:p.Asn555=
ENST00000352993.7:c.670+2120_670+2121delinsAT	ENSP00000312236.5:n.670+2120_670+2121delinsAT
ENST00000354071.7:c.1805_1806delinsAT	ENSP00000326002.7:p.Asn602=
ENST00000357654.7:c.1805_1806delinsAT	ENSP00000350283.3:p.Asn602=
ENST00000412061.3:c.1156_1157delinsAT
ENST00000461221.5:c.*1588_*1589delinsAT	ENSP00000418548.1:n.*1588_*1589delinsAT
ENST00000468300.5:c.787+1018_787+1019delinsAT	ENSP00000417148.1:n.787+1018_787+1019delinsAT
ENST00000470026.5:c.1805_1806delinsAT	ENSP00000419274.1:p.Asn602=
ENST00000471181.6:c.1805_1806delinsAT	ENSP00000418960.2:p.Asn602=
ENST00000477152.5:c.1727_1728delinsAT	ENSP00000419988.1:p.Asn576=
ENST00000478531.5:c.784+1018_784+1019delinsAT	ENSP00000420412.1:n.784+1018_784+1019delinsAT
ENST00000484087.5:c.409+1018_409+1019delinsAT	ENSP00000419481.1:n.409+1018_409+1019delinsAT
ENST00000487825.5:c.412+1018_412+1019delinsAT	ENSP00000418212.1:n.412+1018_412+1019delinsAT
ENST00000491747.6:c.787+1018_787+1019delinsAT	ENSP00000420705.2:n.787+1018_787+1019delinsAT
ENST00000493795.5:c.1664_1665delinsAT	ENSP00000418775.1:p.Asn555=
ENST00000493919.5:c.646+1018_646+1019delinsAT	ENSP00000418819.1:n.646+1018_646+1019delinsAT
ENST00000586385.5:c.5-29775_5-29774delinsAT	ENSP00000465818.1:n.5-29775_5-29774delinsAT
ENST00000591534.5:c.-43-19205_-43-19204delinsAT	ENSP00000467329.1:n.-43-19205_-43-19204delinsAT
ENST00000591849.5:c.-99+31545_-99+31546delinsAT	ENSP00000465347.1:n.-99+31545_-99+31546delinsAT
ENST00000634433.1:c.1682_1683delinsAT	ENSP00000489431.1:p.Asn561=
NM_007294.3:c.1805_1806delinsAT , LRG_292t1:c.1805_1806delinsAT	NP_009225.1:p.Asn602=
NM_007297.3:c.1664_1665delinsAT	NP_009228.2:p.Asn555=
NM_007298.3:c.787+1018_787+1019delinsAT	NP_009229.2:n.787+1018_787+1019delinsAT
NM_007299.3:c.787+1018_787+1019delinsAT	NP_009230.2:n.787+1018_787+1019delinsAT
NM_007300.3:c.1805_1806delinsAT	NP_009231.2:p.Asn602=
NR_027676.1:n.1941_1942delinsAT
NM_007294.4:c.1805_1806delinsAT MANE Select	NP_009225.1:p.Asn602=
NM_007297.4:c.1664_1665delinsAT	NP_009228.2:p.Asn555=
NM_007299.4:c.787+1018_787+1019delinsAT	NP_009230.2:n.787+1018_787+1019delinsAT
NM_007300.4:c.1805_1806delinsAT	NP_009231.2:p.Asn602=
NR_027676.2:n.1982_1983delinsAT