Canonical Allele Identifier: CA658824520

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 548314
• ClinVar RCV Id: RCV000661358 ; RCV000773635 ; RCV001389348
• dbSNP Id: rs1555591596
• MyVariant Identifiers: chr17:g.41246017_41246027del (hg19) ; chr17:g.43094000_43094010del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094002_43094012del , CM000679.2:g.43094002_43094012del	GRCh38
NC_000017.10:g.41246019_41246029del , CM000679.1:g.41246019_41246029del	GRCh37
NC_000017.9:g.38499545_38499555del	NCBI36
NG_005905.2:g.123974_123984del , LRG_292:g.123974_123984del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1585_1595del
ENST00000461574.2:c.1521_1531del	ENSP00000417241.2:p.Thr509SerfsTer3
ENST00000470026.6:c.1521_1531del	ENSP00000419274.2:p.Thr509SerfsTer3
ENST00000473961.6:c.1395_1405del	ENSP00000420201.2:p.Thr467SerfsTer3
ENST00000476777.6:c.1518_1528del	ENSP00000417554.2:p.Thr508SerfsTer3
ENST00000477152.6:c.1443_1453del	ENSP00000419988.2:p.Thr483SerfsTer3
ENST00000478531.6:c.784+734_784+744del	ENSP00000420412.2:n.784+734_784+744del
ENST00000489037.2:c.1443_1453del	ENSP00000420781.2:p.Thr483SerfsTer3
ENST00000493919.6:c.646+734_646+744del	ENSP00000418819.2:n.646+734_646+744del
ENST00000494123.6:c.1521_1531del	ENSP00000419103.2:p.Thr509SerfsTer3
ENST00000497488.2:c.633_643del	ENSP00000418986.2:p.Thr213SerfsTer3
ENST00000618469.2:c.1521_1531del	ENSP00000478114.2:p.Thr509SerfsTer3
ENST00000634433.2:c.1398_1408del	ENSP00000489431.2:p.Thr468SerfsTer3
ENST00000644379.2:c.1521_1531del	ENSP00000496570.2:p.Thr509SerfsTer3
ENST00000644555.2:c.646+734_646+744del	ENSP00000494614.2:n.646+734_646+744del
ENST00000652672.2:c.1380_1390del	ENSP00000498906.2:p.Thr462SerfsTer3
ENST00000484087.6:c.664+734_664+744del	ENSP00000419481.2:n.664+734_664+744del
ENST00000700182.1:c.706+734_706+744del	ENSP00000514849.1:n.706+734_706+744del
ENST00000357654.9:c.1521_1531del MANE Select	ENSP00000350283.3:p.Thr509SerfsTer3
ENST00000471181.7:c.1521_1531del	ENSP00000418960.2:p.Thr509SerfsTer3
ENST00000652672.1:c.1380_1390del	ENSP00000498906.1:p.Thr462SerfsTer3
ENST00000352993.7:c.670+1836_670+1846del	ENSP00000312236.5:n.670+1836_670+1846del
ENST00000354071.7:c.1521_1531del	ENSP00000326002.7:p.Thr509SerfsTer3
ENST00000357654.7:c.1521_1531del	ENSP00000350283.3:p.Thr509SerfsTer3
ENST00000412061.3:c.872_882del
ENST00000461221.5:c.*1304_*1314del	ENSP00000418548.1:n.*1304_*1314del
ENST00000468300.5:c.787+734_787+744del	ENSP00000417148.1:n.787+734_787+744del
ENST00000470026.5:c.1521_1531del	ENSP00000419274.1:p.Thr509SerfsTer3
ENST00000471181.6:c.1521_1531del	ENSP00000418960.2:p.Thr509SerfsTer3
ENST00000477152.5:c.1443_1453del	ENSP00000419988.1:p.Thr483SerfsTer3
ENST00000478531.5:c.784+734_784+744del	ENSP00000420412.1:n.784+734_784+744del
ENST00000484087.5:c.409+734_409+744del	ENSP00000419481.1:n.409+734_409+744del
ENST00000487825.5:c.412+734_412+744del	ENSP00000418212.1:n.412+734_412+744del
ENST00000491747.6:c.787+734_787+744del	ENSP00000420705.2:n.787+734_787+744del
ENST00000493795.5:c.1380_1390del	ENSP00000418775.1:p.Thr462SerfsTer3
ENST00000493919.5:c.646+734_646+744del	ENSP00000418819.1:n.646+734_646+744del
ENST00000586385.5:c.5-30059_5-30049del	ENSP00000465818.1:n.5-30059_5-30049del
ENST00000591534.5:c.-43-19489_-43-19479del	ENSP00000467329.1:n.-43-19489_-43-19479del
ENST00000591849.5:c.-99+31261_-99+31271del	ENSP00000465347.1:n.-99+31261_-99+31271del
ENST00000634433.1:c.1398_1408del	ENSP00000489431.1:p.Thr468SerfsTer3
NM_007294.3:c.1521_1531del , LRG_292t1:c.1521_1531del	NP_009225.1:p.Thr509SerfsTer3
NM_007297.3:c.1380_1390del	NP_009228.2:p.Thr462SerfsTer3
NM_007298.3:c.787+734_787+744del	NP_009229.2:n.787+734_787+744del
NM_007299.3:c.787+734_787+744del	NP_009230.2:n.787+734_787+744del
NM_007300.3:c.1521_1531del	NP_009231.2:p.Thr509SerfsTer3
NR_027676.1:n.1657_1667del
NM_007294.4:c.1521_1531del MANE Select	NP_009225.1:p.Thr509SerfsTer3
NM_007297.4:c.1380_1390del	NP_009228.2:p.Thr462SerfsTer3
NM_007299.4:c.787+734_787+744del	NP_009230.2:n.787+734_787+744del
NM_007300.4:c.1521_1531del	NP_009231.2:p.Thr509SerfsTer3
NR_027676.2:n.1698_1708del