Canonical Allele Identifier: CA2549854290
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43076536_43076537insAGGACCTATGTTTAAGGATCAGGTTACTGAACCTAATTCTTCATCTGGAGAAG , CM000679.2:g.43076536_43076537insAGGACCTATGTTTAAGGATCAGGTTACTGAACCTAATTCTTCATCTGGAGAAG GRCh38
NC_000017.10:g.41228553_41228554insAGGACCTATGTTTAAGGATCAGGTTACTGAACCTAATTCTTCATCTGGAGAAG , CM000679.1:g.41228553_41228554insAGGACCTATGTTTAAGGATCAGGTTACTGAACCTAATTCTTCATCTGGAGAAG GRCh37
NC_000017.9:g.38482079_38482080insAGGACCTATGTTTAAGGATCAGGTTACTGAACCTAATTCTTCATCTGGAGAAG NCBI36
NG_005905.2:g.141447_141448insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT , LRG_292:g.141447_141448insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.4432_4433insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT ENSP00000417241.2:p.Val1478AlafsTer12
ENST00000470026.6:c.4435_4436insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT ENSP00000419274.2:p.Val1479AlafsTer12
ENST00000473961.6:c.4309_4310insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT ENSP00000420201.2:p.Val1437AlafsTer12
ENST00000476777.6:c.4429_4430insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT ENSP00000417554.2:p.Val1477AlafsTer12
ENST00000477152.6:c.4357_4358insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT ENSP00000419988.2:p.Val1453AlafsTer12
ENST00000478531.6:c.1123_1124insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT ENSP00000420412.2:p.Val375AlafsTer12
ENST00000489037.2:c.4357_4358insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT ENSP00000420781.2:p.Val1453AlafsTer12
ENST00000493919.6:c.985_986insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT ENSP00000418819.2:p.Val329AlafsTer12
ENST00000494123.6:c.4435_4436insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT ENSP00000419103.2:p.Val1479AlafsTer12
ENST00000497488.2:c.3547_3548insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT ENSP00000418986.2:p.Val1183AlafsTer12
ENST00000618469.2:c.4435_4436insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT ENSP00000478114.2:p.Val1479AlafsTer12
ENST00000634433.2:c.4312_4313insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT ENSP00000489431.2:p.Val1438AlafsTer12
ENST00000644379.2:c.4501_4502insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT ENSP00000496570.2:p.Val1501AlafsTer12
ENST00000644555.2:c.985_986insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT ENSP00000494614.2:p.Val329AlafsTer12
ENST00000652672.2:c.4294_4295insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT ENSP00000498906.2:p.Val1432AlafsTer12
ENST00000484087.6:c.997_998insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT ENSP00000419481.2:p.Val333AlafsTer12
ENST00000700182.1:c.1042_1043insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT ENSP00000514849.1:p.Val348AlafsTer12
ENST00000357654.9:c.4435_4436insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT MANE Select ENSP00000350283.3:p.Val1479AlafsTer12
ENST00000471181.7:c.4498_4499insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT ENSP00000418960.2:p.Val1500AlafsTer12
ENST00000644379.1:c.822_823insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT
ENST00000352993.7:c.1009_1010insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT ENSP00000312236.5:p.Val337AlafsTer12
ENST00000357654.7:c.4435_4436insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT ENSP00000350283.3:p.Val1479AlafsTer12
ENST00000461221.5:c.*4218_*4219insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT ENSP00000418548.1:n.*4218_*4219insCTTCTCCAGATGAAGAATTAGGTTCAG...
ENST00000468300.5:c.1123_1124insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT ENSP00000417148.1:p.Val375AlafsTer12
ENST00000471181.6:c.4498_4499insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT ENSP00000418960.2:p.Val1500AlafsTer12
ENST00000478531.5:c.1123_1124insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT ENSP00000420412.1:p.Val375AlafsTer12
ENST00000484087.5:c.748_749insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT ENSP00000419481.1:p.Val250AlafsTer12
ENST00000487825.5:c.751_752insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT ENSP00000418212.1:p.Val251AlafsTer12
ENST00000491747.6:c.1123_1124insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT ENSP00000420705.2:p.Val375AlafsTer12
ENST00000493795.5:c.4294_4295insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT ENSP00000418775.1:p.Val1432AlafsTer12
ENST00000493919.5:c.985_986insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT ENSP00000418819.1:p.Val329AlafsTer12
ENST00000586385.5:c.5-12586_5-12585insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT ENSP00000465818.1:n.5-12586_5-12585insCTTCTCCAGATGAAGAATTAGGT...
ENST00000591534.5:c.-43-2016_-43-2015insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT ENSP00000467329.1:n.-43-2016_-43-2015insCTTCTCCAGATGAAGAATTAG...
ENST00000591849.5:c.-98-26347_-98-26346insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT ENSP00000465347.1:n.-98-26347_-98-26346insCTTCTCCAGATGAAGAATT...
ENST00000621897.1:n.326_327insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT
NM_007294.3:c.4435_4436insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT , LRG_292t1:c.4435_4436insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT NP_009225.1:p.Val1479AlafsTer12
NM_007297.3:c.4294_4295insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT NP_009228.2:p.Val1432AlafsTer12
NM_007298.3:c.1123_1124insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT NP_009229.2:p.Val375AlafsTer12
NM_007299.3:c.1123_1124insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT NP_009230.2:p.Val375AlafsTer12
NM_007300.3:c.4498_4499insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT NP_009231.2:p.Val1500AlafsTer12
NR_027676.1:n.4571_4572insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT
NM_007294.4:c.4435_4436insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT MANE Select NP_009225.1:p.Val1479AlafsTer12
NM_007297.4:c.4294_4295insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT NP_009228.2:p.Val1432AlafsTer12
NM_007299.4:c.1123_1124insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT NP_009230.2:p.Val375AlafsTer12
NM_007300.4:c.4498_4499insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT NP_009231.2:p.Val1500AlafsTer12
NR_027676.2:n.4612_4613insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT