Canonical Allele Identifier: CA2260784866

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094381_43094383delinsCAT , CM000679.2:g.43094381_43094383delinsCAT	GRCh38
NC_000017.10:g.41246398_41246400delinsCAT , CM000679.1:g.41246398_41246400delinsCAT	GRCh37
NC_000017.9:g.38499924_38499926delinsCAT	NCBI36
NG_005905.2:g.123601_123603delinsATG , LRG_292:g.123601_123603delinsATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1212_1214delinsATG
ENST00000461574.2:c.1148_1150delinsATG	ENSP00000417241.2:p.Asn383=
ENST00000470026.6:c.1148_1150delinsATG	ENSP00000419274.2:p.Asn383=
ENST00000473961.6:c.1022_1024delinsATG	ENSP00000420201.2:p.Asn341=
ENST00000476777.6:c.1145_1147delinsATG	ENSP00000417554.2:p.Asn382=
ENST00000477152.6:c.1070_1072delinsATG	ENSP00000419988.2:p.Asn357=
ENST00000478531.6:c.784+361_784+363delinsATG	ENSP00000420412.2:n.784+361_784+363delinsATG
ENST00000489037.2:c.1070_1072delinsATG	ENSP00000420781.2:p.Asn357=
ENST00000493919.6:c.646+361_646+363delinsATG	ENSP00000418819.2:n.646+361_646+363delinsATG
ENST00000494123.6:c.1148_1150delinsATG	ENSP00000419103.2:p.Asn383=
ENST00000497488.2:c.260_262delinsATG	ENSP00000418986.2:p.Asn87=
ENST00000618469.2:c.1148_1150delinsATG	ENSP00000478114.2:p.Asn383=
ENST00000634433.2:c.1025_1027delinsATG	ENSP00000489431.2:p.Asn342=
ENST00000644379.2:c.1148_1150delinsATG	ENSP00000496570.2:p.Asn383=
ENST00000644555.2:c.646+361_646+363delinsATG	ENSP00000494614.2:n.646+361_646+363delinsATG
ENST00000652672.2:c.1007_1009delinsATG	ENSP00000498906.2:p.Asn336=
ENST00000484087.6:c.664+361_664+363delinsATG	ENSP00000419481.2:n.664+361_664+363delinsATG
ENST00000700182.1:c.706+361_706+363delinsATG	ENSP00000514849.1:n.706+361_706+363delinsATG
ENST00000700183.1:c.*1156_*1158delinsATG	ENSP00000514850.1:n.*1156_*1158delinsATG
ENST00000357654.9:c.1148_1150delinsATG MANE Select	ENSP00000350283.3:p.Asn383=
ENST00000471181.7:c.1148_1150delinsATG	ENSP00000418960.2:p.Asn383=
ENST00000652672.1:c.1007_1009delinsATG	ENSP00000498906.1:p.Asn336=
ENST00000352993.7:c.670+1463_670+1465delinsATG	ENSP00000312236.5:n.670+1463_670+1465delinsATG
ENST00000354071.7:c.1148_1150delinsATG	ENSP00000326002.7:p.Asn383=
ENST00000357654.7:c.1148_1150delinsATG	ENSP00000350283.3:p.Asn383=
ENST00000412061.3:c.499_501delinsATG
ENST00000461221.5:c.*931_*933delinsATG	ENSP00000418548.1:n.*931_*933delinsATG
ENST00000468300.5:c.787+361_787+363delinsATG	ENSP00000417148.1:n.787+361_787+363delinsATG
ENST00000470026.5:c.1148_1150delinsATG	ENSP00000419274.1:p.Asn383=
ENST00000471181.6:c.1148_1150delinsATG	ENSP00000418960.2:p.Asn383=
ENST00000473961.5:c.745_747delinsATG
ENST00000477152.5:c.1070_1072delinsATG	ENSP00000419988.1:p.Asn357=
ENST00000478531.5:c.784+361_784+363delinsATG	ENSP00000420412.1:n.784+361_784+363delinsATG
ENST00000484087.5:c.409+361_409+363delinsATG	ENSP00000419481.1:n.409+361_409+363delinsATG
ENST00000487825.5:c.412+361_412+363delinsATG	ENSP00000418212.1:n.412+361_412+363delinsATG
ENST00000491747.6:c.787+361_787+363delinsATG	ENSP00000420705.2:n.787+361_787+363delinsATG
ENST00000492859.5:c.*1084_*1086delinsATG	ENSP00000420253.1:n.*1084_*1086delinsATG
ENST00000493795.5:c.1007_1009delinsATG	ENSP00000418775.1:p.Asn336=
ENST00000493919.5:c.646+361_646+363delinsATG	ENSP00000418819.1:n.646+361_646+363delinsATG
ENST00000494123.5:c.1148_1150delinsATG	ENSP00000419103.1:p.Asn383=
ENST00000497488.1:c.260_262delinsATG	ENSP00000418986.1:p.Asn87=
ENST00000586385.5:c.5-30432_5-30430delinsATG	ENSP00000465818.1:n.5-30432_5-30430delinsATG
ENST00000591534.5:c.-43-19862_-43-19860delinsATG	ENSP00000467329.1:n.-43-19862_-43-19860delinsATG
ENST00000591849.5:c.-99+30888_-99+30890delinsATG	ENSP00000465347.1:n.-99+30888_-99+30890delinsATG
ENST00000634433.1:c.1025_1027delinsATG	ENSP00000489431.1:p.Asn342=
NM_007294.3:c.1148_1150delinsATG , LRG_292t1:c.1148_1150delinsATG	NP_009225.1:p.Asn383=
NM_007297.3:c.1007_1009delinsATG	NP_009228.2:p.Asn336=
NM_007298.3:c.787+361_787+363delinsATG	NP_009229.2:n.787+361_787+363delinsATG
NM_007299.3:c.787+361_787+363delinsATG	NP_009230.2:n.787+361_787+363delinsATG
NM_007300.3:c.1148_1150delinsATG	NP_009231.2:p.Asn383=
NR_027676.1:n.1284_1286delinsATG
NM_007294.4:c.1148_1150delinsATG MANE Select	NP_009225.1:p.Asn383=
NM_007297.4:c.1007_1009delinsATG	NP_009228.2:p.Asn336=
NM_007299.4:c.787+361_787+363delinsATG	NP_009230.2:n.787+361_787+363delinsATG
NM_007300.4:c.1148_1150delinsATG	NP_009231.2:p.Asn383=
NR_027676.2:n.1325_1327delinsATG