Canonical Allele Identifier: CA2809540725

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094474_43094475insGG , CM000679.2:g.43094474_43094475insGG	GRCh38
NC_000017.10:g.41246491_41246492insGG , CM000679.1:g.41246491_41246492insGG	GRCh37
NC_000017.9:g.38500017_38500018insGG	NCBI36
NG_005905.2:g.123509_123510insCC , LRG_292:g.123509_123510insCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.1120_1121insCC
ENST00000461574.2:c.1056_1057insCC	ENSP00000417241.2:p.Trp353ProfsTer22
ENST00000470026.6:c.1056_1057insCC	ENSP00000419274.2:p.Trp353ProfsTer22
ENST00000473961.6:c.930_931insCC	ENSP00000420201.2:p.Trp311ProfsTer22
ENST00000476777.6:c.1053_1054insCC	ENSP00000417554.2:p.Trp352ProfsTer22
ENST00000477152.6:c.978_979insCC	ENSP00000419988.2:p.Trp327ProfsTer22
ENST00000478531.6:c.784+269_784+270insCC	ENSP00000420412.2:n.784+269_784+270insCC
ENST00000489037.2:c.978_979insCC	ENSP00000420781.2:p.Trp327ProfsTer22
ENST00000493919.6:c.646+269_646+270insCC	ENSP00000418819.2:n.646+269_646+270insCC
ENST00000494123.6:c.1056_1057insCC	ENSP00000419103.2:p.Trp353ProfsTer22
ENST00000497488.2:c.168_169insCC	ENSP00000418986.2:p.Trp57ProfsTer22
ENST00000618469.2:c.1056_1057insCC	ENSP00000478114.2:p.Trp353ProfsTer22
ENST00000634433.2:c.933_934insCC	ENSP00000489431.2:p.Trp312ProfsTer22
ENST00000644379.2:c.1056_1057insCC	ENSP00000496570.2:p.Trp353ProfsTer22
ENST00000644555.2:c.646+269_646+270insCC	ENSP00000494614.2:n.646+269_646+270insCC
ENST00000652672.2:c.915_916insCC	ENSP00000498906.2:p.Trp306ProfsTer22
ENST00000484087.6:c.664+269_664+270insCC	ENSP00000419481.2:n.664+269_664+270insCC
ENST00000700182.1:c.706+269_706+270insCC	ENSP00000514849.1:n.706+269_706+270insCC
ENST00000700183.1:c.*1064_*1065insCC	ENSP00000514850.1:n.*1064_*1065insCC
ENST00000357654.9:c.1056_1057insCC MANE Select	ENSP00000350283.3:p.Trp353ProfsTer22
ENST00000471181.7:c.1056_1057insCC	ENSP00000418960.2:p.Trp353ProfsTer22
ENST00000652672.1:c.915_916insCC	ENSP00000498906.1:p.Trp306ProfsTer22
ENST00000352993.7:c.670+1371_670+1372insCC	ENSP00000312236.5:n.670+1371_670+1372insCC
ENST00000354071.7:c.1056_1057insCC	ENSP00000326002.7:p.Trp353ProfsTer22
ENST00000357654.7:c.1056_1057insCC	ENSP00000350283.3:p.Trp353ProfsTer22
ENST00000412061.3:c.407_408insCC
ENST00000461221.5:c.*839_*840insCC	ENSP00000418548.1:n.*839_*840insCC
ENST00000468300.5:c.787+269_787+270insCC	ENSP00000417148.1:n.787+269_787+270insCC
ENST00000470026.5:c.1056_1057insCC	ENSP00000419274.1:p.Trp353ProfsTer22
ENST00000471181.6:c.1056_1057insCC	ENSP00000418960.2:p.Trp353ProfsTer22
ENST00000473961.5:c.653_654insCC
ENST00000477152.5:c.978_979insCC	ENSP00000419988.1:p.Trp327ProfsTer22
ENST00000478531.5:c.784+269_784+270insCC	ENSP00000420412.1:n.784+269_784+270insCC
ENST00000484087.5:c.409+269_409+270insCC	ENSP00000419481.1:n.409+269_409+270insCC
ENST00000487825.5:c.412+269_412+270insCC	ENSP00000418212.1:n.412+269_412+270insCC
ENST00000491747.6:c.787+269_787+270insCC	ENSP00000420705.2:n.787+269_787+270insCC
ENST00000492859.5:c.*992_*993insCC	ENSP00000420253.1:n.*992_*993insCC
ENST00000493795.5:c.915_916insCC	ENSP00000418775.1:p.Trp306ProfsTer22
ENST00000493919.5:c.646+269_646+270insCC	ENSP00000418819.1:n.646+269_646+270insCC
ENST00000494123.5:c.1056_1057insCC	ENSP00000419103.1:p.Trp353ProfsTer22
ENST00000497488.1:c.168_169insCC	ENSP00000418986.1:p.Trp57ProfsTer22
ENST00000586385.5:c.5-30524_5-30523insCC	ENSP00000465818.1:n.5-30524_5-30523insCC
ENST00000591534.5:c.-43-19954_-43-19953insCC	ENSP00000467329.1:n.-43-19954_-43-19953insCC
ENST00000591849.5:c.-99+30796_-99+30797insCC	ENSP00000465347.1:n.-99+30796_-99+30797insCC
ENST00000634433.1:c.933_934insCC	ENSP00000489431.1:p.Trp312ProfsTer22
NM_007294.3:c.1056_1057insCC , LRG_292t1:c.1056_1057insCC	NP_009225.1:p.Trp353ProfsTer22
NM_007297.3:c.915_916insCC	NP_009228.2:p.Trp306ProfsTer22
NM_007298.3:c.787+269_787+270insCC	NP_009229.2:n.787+269_787+270insCC
NM_007299.3:c.787+269_787+270insCC	NP_009230.2:n.787+269_787+270insCC
NM_007300.3:c.1056_1057insCC	NP_009231.2:p.Trp353ProfsTer22
NR_027676.1:n.1192_1193insCC
NM_007294.4:c.1056_1057insCC MANE Select	NP_009225.1:p.Trp353ProfsTer22
NM_007297.4:c.915_916insCC	NP_009228.2:p.Trp306ProfsTer22
NM_007299.4:c.787+269_787+270insCC	NP_009230.2:n.787+269_787+270insCC
NM_007300.4:c.1056_1057insCC	NP_009231.2:p.Trp353ProfsTer22
NR_027676.2:n.1233_1234insCC