Canonical Allele Identifier: CA2260783893

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093370_43093371delinsAT , CM000679.2:g.43093370_43093371delinsAT	GRCh38
NC_000017.10:g.41245387_41245388delinsAT , CM000679.1:g.41245387_41245388delinsAT	GRCh37
NC_000017.9:g.38498913_38498914delinsAT	NCBI36
NG_005905.2:g.124613_124614delinsAT , LRG_292:g.124613_124614delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.2224_2225delinsAT
ENST00000461574.2:c.2160_2161delinsAT	ENSP00000417241.2:p.Glu720=
ENST00000470026.6:c.2160_2161delinsAT	ENSP00000419274.2:p.Glu720=
ENST00000473961.6:c.2034_2035delinsAT	ENSP00000420201.2:p.Glu678=
ENST00000476777.6:c.2157_2158delinsAT	ENSP00000417554.2:p.Glu719=
ENST00000477152.6:c.2082_2083delinsAT	ENSP00000419988.2:p.Glu694=
ENST00000478531.6:c.784+1373_784+1374delinsAT	ENSP00000420412.2:n.784+1373_784+1374deli...
ENST00000489037.2:c.2082_2083delinsAT	ENSP00000420781.2:p.Glu694=
ENST00000493919.6:c.646+1373_646+1374delinsAT	ENSP00000418819.2:n.646+1373_646+1374deli...
ENST00000494123.6:c.2160_2161delinsAT	ENSP00000419103.2:p.Glu720=
ENST00000497488.2:c.1272_1273delinsAT	ENSP00000418986.2:p.Glu424=
ENST00000618469.2:c.2160_2161delinsAT	ENSP00000478114.2:p.Glu720=
ENST00000634433.2:c.2037_2038delinsAT	ENSP00000489431.2:p.Glu679=
ENST00000644379.2:c.2160_2161delinsAT	ENSP00000496570.2:p.Glu720=
ENST00000644555.2:c.646+1373_646+1374delinsAT	ENSP00000494614.2:n.646+1373_646+1374deli...
ENST00000652672.2:c.2019_2020delinsAT	ENSP00000498906.2:p.Glu673=
ENST00000484087.6:c.664+1373_664+1374delinsAT	ENSP00000419481.2:n.664+1373_664+1374deli...
ENST00000700182.1:c.706+1373_706+1374delinsAT	ENSP00000514849.1:n.706+1373_706+1374deli...
ENST00000357654.9:c.2160_2161delinsAT MANE Select	ENSP00000350283.3:p.Glu720=
ENST00000471181.7:c.2160_2161delinsAT	ENSP00000418960.2:p.Glu720=
ENST00000352993.7:c.671-2339_671-2338delinsAT	ENSP00000312236.5:n.671-2339_671-2338deli...
ENST00000354071.7:c.2160_2161delinsAT	ENSP00000326002.7:p.Glu720=
ENST00000357654.7:c.2160_2161delinsAT	ENSP00000350283.3:p.Glu720=
ENST00000461221.5:c.*1943_*1944delinsAT	ENSP00000418548.1:n.*1943_*1944delinsAT
ENST00000468300.5:c.787+1373_787+1374delinsAT	ENSP00000417148.1:n.787+1373_787+1374deli...
ENST00000471181.6:c.2160_2161delinsAT	ENSP00000418960.2:p.Glu720=
ENST00000478531.5:c.784+1373_784+1374delinsAT	ENSP00000420412.1:n.784+1373_784+1374deli...
ENST00000484087.5:c.409+1373_409+1374delinsAT	ENSP00000419481.1:n.409+1373_409+1374deli...
ENST00000487825.5:c.412+1373_412+1374delinsAT	ENSP00000418212.1:n.412+1373_412+1374deli...
ENST00000491747.6:c.787+1373_787+1374delinsAT	ENSP00000420705.2:n.787+1373_787+1374deli...
ENST00000493795.5:c.2019_2020delinsAT	ENSP00000418775.1:p.Glu673=
ENST00000493919.5:c.646+1373_646+1374delinsAT	ENSP00000418819.1:n.646+1373_646+1374deli...
ENST00000586385.5:c.5-29420_5-29419delinsAT	ENSP00000465818.1:n.5-29420_5-29419delins...
ENST00000591534.5:c.-43-18850_-43-18849delinsAT	ENSP00000467329.1:n.-43-18850_-43-18849de...
ENST00000591849.5:c.-99+31900_-99+31901delinsAT	ENSP00000465347.1:n.-99+31900_-99+31901de...
ENST00000634433.1:c.2037_2038delinsAT	ENSP00000489431.1:p.Glu679=
NM_007294.3:c.2160_2161delinsAT , LRG_292t1:c.2160_2161delinsAT	NP_009225.1:p.Glu720=
NM_007297.3:c.2019_2020delinsAT	NP_009228.2:p.Glu673=
NM_007298.3:c.787+1373_787+1374delinsAT	NP_009229.2:n.787+1373_787+1374delinsAT
NM_007299.3:c.787+1373_787+1374delinsAT	NP_009230.2:n.787+1373_787+1374delinsAT
NM_007300.3:c.2160_2161delinsAT	NP_009231.2:p.Glu720=
NR_027676.1:n.2296_2297delinsAT
NM_007294.4:c.2160_2161delinsAT MANE Select	NP_009225.1:p.Glu720=
NM_007297.4:c.2019_2020delinsAT	NP_009228.2:p.Glu673=
NM_007299.4:c.787+1373_787+1374delinsAT	NP_009230.2:n.787+1373_787+1374delinsAT
NM_007300.4:c.2160_2161delinsAT	NP_009231.2:p.Glu720=
NR_027676.2:n.2337_2338delinsAT