Canonical Allele Identifier: CA2260784808
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094311_43094354delinsGCATTTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAA , CM000679.2:g.43094311_43094354delinsGCATTTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAA GRCh38
NC_000017.10:g.41246328_41246371delinsGCATTTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAA , CM000679.1:g.41246328_41246371delinsGCATTTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAA GRCh37
NC_000017.9:g.38499854_38499897delinsGCATTTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAA NCBI36
NG_005905.2:g.123630_123673delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC , LRG_292:g.123630_123673delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.1241_1284delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC
ENST00000461574.2:c.1177_1220delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC ENSP00000417241.2:p.Leu393=
ENST00000470026.6:c.1177_1220delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC ENSP00000419274.2:p.Leu393=
ENST00000473961.6:c.1051_1094delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC ENSP00000420201.2:p.Leu351=
ENST00000476777.6:c.1174_1217delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC ENSP00000417554.2:p.Leu392=
ENST00000477152.6:c.1099_1142delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC ENSP00000419988.2:p.Leu367=
ENST00000478531.6:c.784+390_784+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC ENSP00000420412.2:n.784+390_784+433delinsTTAGGTTCTGATGACTCACA...
ENST00000489037.2:c.1099_1142delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC ENSP00000420781.2:p.Leu367=
ENST00000493919.6:c.646+390_646+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC ENSP00000418819.2:n.646+390_646+433delinsTTAGGTTCTGATGACTCACA...
ENST00000494123.6:c.1177_1220delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC ENSP00000419103.2:p.Leu393=
ENST00000497488.2:c.289_332delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC ENSP00000418986.2:p.Leu97=
ENST00000618469.2:c.1177_1220delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC ENSP00000478114.2:p.Leu393=
ENST00000634433.2:c.1054_1097delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC ENSP00000489431.2:p.Leu352=
ENST00000644379.2:c.1177_1220delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC ENSP00000496570.2:p.Leu393=
ENST00000644555.2:c.646+390_646+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC ENSP00000494614.2:n.646+390_646+433delinsTTAGGTTCTGATGACTCACA...
ENST00000652672.2:c.1036_1079delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC ENSP00000498906.2:p.Leu346=
ENST00000484087.6:c.664+390_664+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC ENSP00000419481.2:n.664+390_664+433delinsTTAGGTTCTGATGACTCACA...
ENST00000700182.1:c.706+390_706+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC ENSP00000514849.1:n.706+390_706+433delinsTTAGGTTCTGATGACTCACA...
ENST00000700183.1:c.*1185_*1228delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC ENSP00000514850.1:n.*1185_*1228delinsTTAGGTTCTGATGACTCACATGAT...
ENST00000357654.9:c.1177_1220delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC MANE Select ENSP00000350283.3:p.Leu393=
ENST00000471181.7:c.1177_1220delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC ENSP00000418960.2:p.Leu393=
ENST00000652672.1:c.1036_1079delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC ENSP00000498906.1:p.Leu346=
ENST00000352993.7:c.670+1492_670+1535delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC ENSP00000312236.5:n.670+1492_670+1535delinsTTAGGTTCTGATGACTCA...
ENST00000354071.7:c.1177_1220delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC ENSP00000326002.7:p.Leu393=
ENST00000357654.7:c.1177_1220delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC ENSP00000350283.3:p.Leu393=
ENST00000412061.3:c.528_571delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC
ENST00000461221.5:c.*960_*1003delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC ENSP00000418548.1:n.*960_*1003delinsTTAGGTTCTGATGACTCACATGATG...
ENST00000468300.5:c.787+390_787+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC ENSP00000417148.1:n.787+390_787+433delinsTTAGGTTCTGATGACTCACA...
ENST00000470026.5:c.1177_1220delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC ENSP00000419274.1:p.Leu393=
ENST00000471181.6:c.1177_1220delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC ENSP00000418960.2:p.Leu393=
ENST00000473961.5:c.774_817delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC
ENST00000477152.5:c.1099_1142delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC ENSP00000419988.1:p.Leu367=
ENST00000478531.5:c.784+390_784+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC ENSP00000420412.1:n.784+390_784+433delinsTTAGGTTCTGATGACTCACA...
ENST00000484087.5:c.409+390_409+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC ENSP00000419481.1:n.409+390_409+433delinsTTAGGTTCTGATGACTCACA...
ENST00000487825.5:c.412+390_412+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC ENSP00000418212.1:n.412+390_412+433delinsTTAGGTTCTGATGACTCACA...
ENST00000491747.6:c.787+390_787+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC ENSP00000420705.2:n.787+390_787+433delinsTTAGGTTCTGATGACTCACA...
ENST00000492859.5:c.*1113_*1156delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC ENSP00000420253.1:n.*1113_*1156delinsTTAGGTTCTGATGACTCACATGAT...
ENST00000493795.5:c.1036_1079delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC ENSP00000418775.1:p.Leu346=
ENST00000493919.5:c.646+390_646+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC ENSP00000418819.1:n.646+390_646+433delinsTTAGGTTCTGATGACTCACA...
ENST00000494123.5:c.1177_1220delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC ENSP00000419103.1:p.Leu393=
ENST00000497488.1:c.289_332delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC ENSP00000418986.1:p.Leu97=
ENST00000586385.5:c.5-30403_5-30360delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC ENSP00000465818.1:n.5-30403_5-30360delinsTTAGGTTCTGATGACTCACA...
ENST00000591534.5:c.-43-19833_-43-19790delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC ENSP00000467329.1:n.-43-19833_-43-19790delinsTTAGGTTCTGATGACT...
ENST00000591849.5:c.-99+30917_-99+30960delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC ENSP00000465347.1:n.-99+30917_-99+30960delinsTTAGGTTCTGATGACT...
ENST00000634433.1:c.1054_1097delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC ENSP00000489431.1:p.Leu352=
NM_007294.3:c.1177_1220delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC , LRG_292t1:c.1177_1220delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC NP_009225.1:p.Leu393=
NM_007297.3:c.1036_1079delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC NP_009228.2:p.Leu346=
NM_007298.3:c.787+390_787+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC NP_009229.2:n.787+390_787+433delinsTTAGGTTCTGATGACTCACATGATGG...
NM_007299.3:c.787+390_787+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC NP_009230.2:n.787+390_787+433delinsTTAGGTTCTGATGACTCACATGATGG...
NM_007300.3:c.1177_1220delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC NP_009231.2:p.Leu393=
NR_027676.1:n.1313_1356delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC
NM_007294.4:c.1177_1220delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC MANE Select NP_009225.1:p.Leu393=
NM_007297.4:c.1036_1079delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC NP_009228.2:p.Leu346=
NM_007299.4:c.787+390_787+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC NP_009230.2:n.787+390_787+433delinsTTAGGTTCTGATGACTCACATGATGG...
NM_007300.4:c.1177_1220delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC NP_009231.2:p.Leu393=
NR_027676.2:n.1354_1397delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC