Canonical Allele Identifier: CA2697554272

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2760188
• ClinVar RCV Id: RCV003531321

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093797_43093967del , CM000679.2:g.43093797_43093967del	GRCh38
NC_000017.10:g.41245814_41245984del , CM000679.1:g.41245814_41245984del	GRCh37
NC_000017.9:g.38499340_38499510del	NCBI36
NG_005905.2:g.124018_124188del , LRG_292:g.124018_124188del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.1629_1799del
ENST00000461574.2:c.1565_1735del	ENSP00000417241.2:p.Asp522_Ser578del
ENST00000470026.6:c.1565_1735del	ENSP00000419274.2:p.Asp522_Ser578del
ENST00000473961.6:c.1439_1609del	ENSP00000420201.2:p.Asp480_Ser536del
ENST00000476777.6:c.1562_1732del	ENSP00000417554.2:p.Asp521_Ser577del
ENST00000477152.6:c.1487_1657del	ENSP00000419988.2:p.Asp496_Ser552del
ENST00000478531.6:c.784+778_784+948del	ENSP00000420412.2:n.784+778_784+948del
ENST00000489037.2:c.1487_1657del	ENSP00000420781.2:p.Asp496_Ser552del
ENST00000493919.6:c.646+778_646+948del	ENSP00000418819.2:n.646+778_646+948del
ENST00000494123.6:c.1565_1735del	ENSP00000419103.2:p.Asp522_Ser578del
ENST00000497488.2:c.677_847del	ENSP00000418986.2:p.Asp226_Ser282del
ENST00000618469.2:c.1565_1735del	ENSP00000478114.2:p.Asp522_Ser578del
ENST00000634433.2:c.1442_1612del	ENSP00000489431.2:p.Asp481_Ser537del
ENST00000644379.2:c.1565_1735del	ENSP00000496570.2:p.Asp522_Ser578del
ENST00000644555.2:c.646+778_646+948del	ENSP00000494614.2:n.646+778_646+948del
ENST00000652672.2:c.1424_1594del	ENSP00000498906.2:p.Asp475_Ser531del
ENST00000484087.6:c.664+778_664+948del	ENSP00000419481.2:n.664+778_664+948del
ENST00000700182.1:c.706+778_706+948del	ENSP00000514849.1:n.706+778_706+948del
ENST00000357654.9:c.1565_1735del MANE Select	ENSP00000350283.3:p.Asp522_Ser578del
ENST00000471181.7:c.1565_1735del	ENSP00000418960.2:p.Asp522_Ser578del
ENST00000652672.1:c.1424_1594del	ENSP00000498906.1:p.Asp475_Ser531del
ENST00000352993.7:c.670+1880_670+2050del	ENSP00000312236.5:n.670+1880_670+2050del
ENST00000354071.7:c.1565_1735del	ENSP00000326002.7:p.Asp522_Ser578del
ENST00000357654.7:c.1565_1735del	ENSP00000350283.3:p.Asp522_Ser578del
ENST00000412061.3:c.916_1086del
ENST00000461221.5:c.*1348_*1518del	ENSP00000418548.1:n.*1348_*1518del
ENST00000468300.5:c.787+778_787+948del	ENSP00000417148.1:n.787+778_787+948del
ENST00000470026.5:c.1565_1735del	ENSP00000419274.1:p.Asp522_Ser578del
ENST00000471181.6:c.1565_1735del	ENSP00000418960.2:p.Asp522_Ser578del
ENST00000477152.5:c.1487_1657del	ENSP00000419988.1:p.Asp496_Ser552del
ENST00000478531.5:c.784+778_784+948del	ENSP00000420412.1:n.784+778_784+948del
ENST00000484087.5:c.409+778_409+948del	ENSP00000419481.1:n.409+778_409+948del
ENST00000487825.5:c.412+778_412+948del	ENSP00000418212.1:n.412+778_412+948del
ENST00000491747.6:c.787+778_787+948del	ENSP00000420705.2:n.787+778_787+948del
ENST00000493795.5:c.1424_1594del	ENSP00000418775.1:p.Asp475_Ser531del
ENST00000493919.5:c.646+778_646+948del	ENSP00000418819.1:n.646+778_646+948del
ENST00000586385.5:c.5-30015_5-29845del	ENSP00000465818.1:n.5-30015_5-29845del
ENST00000591534.5:c.-43-19445_-43-19275del	ENSP00000467329.1:n.-43-19445_-43-19275de...
ENST00000591849.5:c.-99+31305_-99+31475del	ENSP00000465347.1:n.-99+31305_-99+31475de...
ENST00000634433.1:c.1442_1612del	ENSP00000489431.1:p.Asp481_Ser537del
NM_007294.3:c.1565_1735del , LRG_292t1:c.1565_1735del	NP_009225.1:p.Asp522_Ser578del
NM_007297.3:c.1424_1594del	NP_009228.2:p.Asp475_Ser531del
NM_007298.3:c.787+778_787+948del	NP_009229.2:n.787+778_787+948del
NM_007299.3:c.787+778_787+948del	NP_009230.2:n.787+778_787+948del
NM_007300.3:c.1565_1735del	NP_009231.2:p.Asp522_Ser578del
NR_027676.1:n.1701_1871del
NM_007294.4:c.1565_1735del MANE Select	NP_009225.1:p.Asp522_Ser578del
NM_007297.4:c.1424_1594del	NP_009228.2:p.Asp475_Ser531del
NM_007299.4:c.787+778_787+948del	NP_009230.2:n.787+778_787+948del
NM_007300.4:c.1565_1735del	NP_009231.2:p.Asp522_Ser578del
NR_027676.2:n.1742_1912del