Canonical Allele Identifier: CA2260784815
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094315_43094355delinsTTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAAC , CM000679.2:g.43094315_43094355delinsTTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAAC GRCh38
NC_000017.10:g.41246332_41246372delinsTTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAAC , CM000679.1:g.41246332_41246372delinsTTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAAC GRCh37
NC_000017.9:g.38499858_38499898delinsTTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAAC NCBI36
NG_005905.2:g.123629_123669delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA , LRG_292:g.123629_123669delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.1240_1280delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA
ENST00000461574.2:c.1176_1216delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA ENSP00000417241.2:p.Leu392=
ENST00000470026.6:c.1176_1216delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA ENSP00000419274.2:p.Leu392=
ENST00000473961.6:c.1050_1090delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA ENSP00000420201.2:p.Leu350=
ENST00000476777.6:c.1173_1213delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA ENSP00000417554.2:p.Leu391=
ENST00000477152.6:c.1098_1138delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA ENSP00000419988.2:p.Leu366=
ENST00000478531.6:c.784+389_784+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA ENSP00000420412.2:n.784+389_784+429delins...
ENST00000489037.2:c.1098_1138delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA ENSP00000420781.2:p.Leu366=
ENST00000493919.6:c.646+389_646+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA ENSP00000418819.2:n.646+389_646+429delins...
ENST00000494123.6:c.1176_1216delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA ENSP00000419103.2:p.Leu392=
ENST00000497488.2:c.288_328delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA ENSP00000418986.2:p.Leu96=
ENST00000618469.2:c.1176_1216delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA ENSP00000478114.2:p.Leu392=
ENST00000634433.2:c.1053_1093delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA ENSP00000489431.2:p.Leu351=
ENST00000644379.2:c.1176_1216delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA ENSP00000496570.2:p.Leu392=
ENST00000644555.2:c.646+389_646+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA ENSP00000494614.2:n.646+389_646+429delins...
ENST00000652672.2:c.1035_1075delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA ENSP00000498906.2:p.Leu345=
ENST00000484087.6:c.664+389_664+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA ENSP00000419481.2:n.664+389_664+429delins...
ENST00000700182.1:c.706+389_706+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA ENSP00000514849.1:n.706+389_706+429delins...
ENST00000700183.1:c.*1184_*1224delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA ENSP00000514850.1:n.*1184_*1224delinsGTTA...
ENST00000357654.9:c.1176_1216delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA MANE Select ENSP00000350283.3:p.Leu392=
ENST00000471181.7:c.1176_1216delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA ENSP00000418960.2:p.Leu392=
ENST00000652672.1:c.1035_1075delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA ENSP00000498906.1:p.Leu345=
ENST00000352993.7:c.670+1491_670+1531delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA ENSP00000312236.5:n.670+1491_670+1531deli...
ENST00000354071.7:c.1176_1216delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA ENSP00000326002.7:p.Leu392=
ENST00000357654.7:c.1176_1216delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA ENSP00000350283.3:p.Leu392=
ENST00000412061.3:c.527_567delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA
ENST00000461221.5:c.*959_*999delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA ENSP00000418548.1:n.*959_*999delinsGTTAGG...
ENST00000468300.5:c.787+389_787+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA ENSP00000417148.1:n.787+389_787+429delins...
ENST00000470026.5:c.1176_1216delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA ENSP00000419274.1:p.Leu392=
ENST00000471181.6:c.1176_1216delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA ENSP00000418960.2:p.Leu392=
ENST00000473961.5:c.773_813delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA
ENST00000477152.5:c.1098_1138delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA ENSP00000419988.1:p.Leu366=
ENST00000478531.5:c.784+389_784+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA ENSP00000420412.1:n.784+389_784+429delins...
ENST00000484087.5:c.409+389_409+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA ENSP00000419481.1:n.409+389_409+429delins...
ENST00000487825.5:c.412+389_412+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA ENSP00000418212.1:n.412+389_412+429delins...
ENST00000491747.6:c.787+389_787+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA ENSP00000420705.2:n.787+389_787+429delins...
ENST00000492859.5:c.*1112_*1152delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA ENSP00000420253.1:n.*1112_*1152delinsGTTA...
ENST00000493795.5:c.1035_1075delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA ENSP00000418775.1:p.Leu345=
ENST00000493919.5:c.646+389_646+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA ENSP00000418819.1:n.646+389_646+429delins...
ENST00000494123.5:c.1176_1216delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA ENSP00000419103.1:p.Leu392=
ENST00000497488.1:c.288_328delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA ENSP00000418986.1:p.Leu96=
ENST00000586385.5:c.5-30404_5-30364delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA ENSP00000465818.1:n.5-30404_5-30364delins...
ENST00000591534.5:c.-43-19834_-43-19794delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA ENSP00000467329.1:n.-43-19834_-43-19794de...
ENST00000591849.5:c.-99+30916_-99+30956delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA ENSP00000465347.1:n.-99+30916_-99+30956de...
ENST00000634433.1:c.1053_1093delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA ENSP00000489431.1:p.Leu351=
NM_007294.3:c.1176_1216delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA , LRG_292t1:c.1176_1216delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA NP_009225.1:p.Leu392=
NM_007297.3:c.1035_1075delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA NP_009228.2:p.Leu345=
NM_007298.3:c.787+389_787+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA NP_009229.2:n.787+389_787+429delinsGTTAGG...
NM_007299.3:c.787+389_787+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA NP_009230.2:n.787+389_787+429delinsGTTAGG...
NM_007300.3:c.1176_1216delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA NP_009231.2:p.Leu392=
NR_027676.1:n.1312_1352delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA
NM_007294.4:c.1176_1216delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA MANE Select NP_009225.1:p.Leu392=
NM_007297.4:c.1035_1075delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA NP_009228.2:p.Leu345=
NM_007299.4:c.787+389_787+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA NP_009230.2:n.787+389_787+429delinsGTTAGG...
NM_007300.4:c.1176_1216delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA NP_009231.2:p.Leu392=
NR_027676.2:n.1353_1393delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA