Canonical Allele Identifier: CA2260785011
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094523_43094587delinsTGTGCTGGGAGTCCGCCTATCATTACATGTTTCCTTACTTCCAGCCCATCTGTTATGTTGGCTCC , CM000679.2:g.43094523_43094587delinsTGTGCTGGGAGTCCGCCTATCATTACATGTTTCCTTACTTCCAGCCCATCTGTTATGTTGGCTCC GRCh38
NC_000017.10:g.41246540_41246604delinsTGTGCTGGGAGTCCGCCTATCATTACATGTTTCCTTACTTCCAGCCCATCTGTTATGTTGGCTCC , CM000679.1:g.41246540_41246604delinsTGTGCTGGGAGTCCGCCTATCATTACATGTTTCCTTACTTCCAGCCCATCTGTTATGTTGGCTCC GRCh37
NC_000017.9:g.38500066_38500130delinsTGTGCTGGGAGTCCGCCTATCATTACATGTTTCCTTACTTCCAGCCCATCTGTTATGTTGGCTCC NCBI36
NG_005905.2:g.123397_123461delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA , LRG_292:g.123397_123461delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.1008_1072delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA
ENST00000461574.2:c.944_1008delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA ENSP00000417241.2:p.Arg315=
ENST00000470026.6:c.944_1008delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA ENSP00000419274.2:p.Arg315=
ENST00000473961.6:c.818_882delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA ENSP00000420201.2:p.Arg273=
ENST00000476777.6:c.941_1005delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA ENSP00000417554.2:p.Arg314=
ENST00000477152.6:c.866_930delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA ENSP00000419988.2:p.Arg289=
ENST00000478531.6:c.784+157_784+221delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA ENSP00000420412.2:n.784+157_784+221delins...
ENST00000489037.2:c.866_930delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA ENSP00000420781.2:p.Arg289=
ENST00000493919.6:c.646+157_646+221delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA ENSP00000418819.2:n.646+157_646+221delins...
ENST00000494123.6:c.944_1008delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA ENSP00000419103.2:p.Arg315=
ENST00000497488.2:c.56_120delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA ENSP00000418986.2:p.Arg19=
ENST00000618469.2:c.944_1008delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA ENSP00000478114.2:p.Arg315=
ENST00000634433.2:c.821_885delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA ENSP00000489431.2:p.Arg274=
ENST00000644379.2:c.944_1008delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA ENSP00000496570.2:p.Arg315=
ENST00000644555.2:c.646+157_646+221delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA ENSP00000494614.2:n.646+157_646+221delins...
ENST00000652672.2:c.803_867delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA ENSP00000498906.2:p.Arg268=
ENST00000484087.6:c.664+157_664+221delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA ENSP00000419481.2:n.664+157_664+221delins...
ENST00000700182.1:c.706+157_706+221delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA ENSP00000514849.1:n.706+157_706+221delins...
ENST00000700183.1:c.*952_*1016delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA ENSP00000514850.1:n.*952_*1016delinsGGAGC...
ENST00000357654.9:c.944_1008delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA MANE Select ENSP00000350283.3:p.Arg315=
ENST00000471181.7:c.944_1008delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA ENSP00000418960.2:p.Arg315=
ENST00000642945.1:c.*818_*882delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA ENSP00000495897.1:n.*818_*882delinsGGAGCC...
ENST00000652672.1:c.803_867delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA ENSP00000498906.1:p.Arg268=
ENST00000352993.7:c.670+1259_670+1323delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA ENSP00000312236.5:n.670+1259_670+1323deli...
ENST00000354071.7:c.944_1008delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA ENSP00000326002.7:p.Arg315=
ENST00000357654.7:c.944_1008delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA ENSP00000350283.3:p.Arg315=
ENST00000412061.3:c.295_359delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA
ENST00000461221.5:c.*727_*791delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA ENSP00000418548.1:n.*727_*791delinsGGAGCC...
ENST00000468300.5:c.787+157_787+221delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA ENSP00000417148.1:n.787+157_787+221delins...
ENST00000470026.5:c.944_1008delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA ENSP00000419274.1:p.Arg315=
ENST00000471181.6:c.944_1008delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA ENSP00000418960.2:p.Arg315=
ENST00000473961.5:c.541_605delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA
ENST00000477152.5:c.866_930delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA ENSP00000419988.1:p.Arg289=
ENST00000478531.5:c.784+157_784+221delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA ENSP00000420412.1:n.784+157_784+221delins...
ENST00000484087.5:c.409+157_409+221delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA ENSP00000419481.1:n.409+157_409+221delins...
ENST00000487825.5:c.412+157_412+221delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA ENSP00000418212.1:n.412+157_412+221delins...
ENST00000491747.6:c.787+157_787+221delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA ENSP00000420705.2:n.787+157_787+221delins...
ENST00000492859.5:c.*880_*944delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA ENSP00000420253.1:n.*880_*944delinsGGAGCC...
ENST00000493795.5:c.803_867delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA ENSP00000418775.1:p.Arg268=
ENST00000493919.5:c.646+157_646+221delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA ENSP00000418819.1:n.646+157_646+221delins...
ENST00000494123.5:c.944_1008delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA ENSP00000419103.1:p.Arg315=
ENST00000497488.1:c.56_120delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA ENSP00000418986.1:p.Arg19=
ENST00000586385.5:c.4+30595_5-30572delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA ENSP00000465818.1:n.4+30595_5-30572delins...
ENST00000591534.5:c.-43-20066_-43-20002delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA ENSP00000467329.1:n.-43-20066_-43-20002de...
ENST00000591849.5:c.-99+30684_-99+30748delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA ENSP00000465347.1:n.-99+30684_-99+30748de...
ENST00000634433.1:c.821_885delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA ENSP00000489431.1:p.Arg274=
NM_007294.3:c.944_1008delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA , LRG_292t1:c.944_1008delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA NP_009225.1:p.Arg315=
NM_007297.3:c.803_867delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA NP_009228.2:p.Arg268=
NM_007298.3:c.787+157_787+221delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA NP_009229.2:n.787+157_787+221delinsGGAGCC...
NM_007299.3:c.787+157_787+221delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA NP_009230.2:n.787+157_787+221delinsGGAGCC...
NM_007300.3:c.944_1008delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA NP_009231.2:p.Arg315=
NR_027676.1:n.1080_1144delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA
NM_007294.4:c.944_1008delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA MANE Select NP_009225.1:p.Arg315=
NM_007297.4:c.803_867delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA NP_009228.2:p.Arg268=
NM_007299.4:c.787+157_787+221delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA NP_009230.2:n.787+157_787+221delinsGGAGCC...
NM_007300.4:c.944_1008delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA NP_009231.2:p.Arg315=
NR_027676.2:n.1121_1185delinsGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACA