Canonical Allele Identifier: CA10586654

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 254397
• ClinVar RCV Id: RCV000241118
• dbSNP Id: rs886037991
• MyVariant Identifiers: chr17:g.41245814_41245815del (hg19) ; chr17:g.43093797_43093798del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093798_43093799del , CM000679.2:g.43093798_43093799del	GRCh38
NC_000017.10:g.41245815_41245816del , CM000679.1:g.41245815_41245816del	GRCh37
NC_000017.9:g.38499341_38499342del	NCBI36
NG_005905.2:g.124186_124187del , LRG_292:g.124186_124187del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1797_1798del
ENST00000461574.2:c.1733_1734del	ENSP00000417241.2:p.Ser578CysfsTer7
ENST00000470026.6:c.1733_1734del	ENSP00000419274.2:p.Ser578CysfsTer7
ENST00000473961.6:c.1607_1608del	ENSP00000420201.2:p.Ser536CysfsTer7
ENST00000476777.6:c.1730_1731del	ENSP00000417554.2:p.Ser577CysfsTer7
ENST00000477152.6:c.1655_1656del	ENSP00000419988.2:p.Ser552CysfsTer7
ENST00000478531.6:c.784+946_784+947del	ENSP00000420412.2:n.784+946_784+947del
ENST00000489037.2:c.1655_1656del	ENSP00000420781.2:p.Ser552CysfsTer7
ENST00000493919.6:c.646+946_646+947del	ENSP00000418819.2:n.646+946_646+947del
ENST00000494123.6:c.1733_1734del	ENSP00000419103.2:p.Ser578CysfsTer7
ENST00000497488.2:c.845_846del	ENSP00000418986.2:p.Ser282CysfsTer7
ENST00000618469.2:c.1733_1734del	ENSP00000478114.2:p.Ser578CysfsTer7
ENST00000634433.2:c.1610_1611del	ENSP00000489431.2:p.Ser537CysfsTer7
ENST00000644379.2:c.1733_1734del	ENSP00000496570.2:p.Ser578CysfsTer7
ENST00000644555.2:c.646+946_646+947del	ENSP00000494614.2:n.646+946_646+947del
ENST00000652672.2:c.1592_1593del	ENSP00000498906.2:p.Ser531CysfsTer7
ENST00000484087.6:c.664+946_664+947del	ENSP00000419481.2:n.664+946_664+947del
ENST00000700182.1:c.706+946_706+947del	ENSP00000514849.1:n.706+946_706+947del
ENST00000357654.9:c.1733_1734del MANE Select	ENSP00000350283.3:p.Ser578CysfsTer7
ENST00000471181.7:c.1733_1734del	ENSP00000418960.2:p.Ser578CysfsTer7
ENST00000652672.1:c.1592_1593del	ENSP00000498906.1:p.Ser531CysfsTer7
ENST00000352993.7:c.670+2048_670+2049del	ENSP00000312236.5:n.670+2048_670+2049del
ENST00000354071.7:c.1733_1734del	ENSP00000326002.7:p.Ser578CysfsTer7
ENST00000357654.7:c.1733_1734del	ENSP00000350283.3:p.Ser578CysfsTer7
ENST00000412061.3:c.1084_1085del
ENST00000461221.5:c.*1516_*1517del	ENSP00000418548.1:n.*1516_*1517del
ENST00000468300.5:c.787+946_787+947del	ENSP00000417148.1:n.787+946_787+947del
ENST00000470026.5:c.1733_1734del	ENSP00000419274.1:p.Ser578CysfsTer7
ENST00000471181.6:c.1733_1734del	ENSP00000418960.2:p.Ser578CysfsTer7
ENST00000477152.5:c.1655_1656del	ENSP00000419988.1:p.Ser552CysfsTer7
ENST00000478531.5:c.784+946_784+947del	ENSP00000420412.1:n.784+946_784+947del
ENST00000484087.5:c.409+946_409+947del	ENSP00000419481.1:n.409+946_409+947del
ENST00000487825.5:c.412+946_412+947del	ENSP00000418212.1:n.412+946_412+947del
ENST00000491747.6:c.787+946_787+947del	ENSP00000420705.2:n.787+946_787+947del
ENST00000493795.5:c.1592_1593del	ENSP00000418775.1:p.Ser531CysfsTer7
ENST00000493919.5:c.646+946_646+947del	ENSP00000418819.1:n.646+946_646+947del
ENST00000586385.5:c.5-29847_5-29846del	ENSP00000465818.1:n.5-29847_5-29846del
ENST00000591534.5:c.-43-19277_-43-19276del	ENSP00000467329.1:n.-43-19277_-43-19276del
ENST00000591849.5:c.-99+31473_-99+31474del	ENSP00000465347.1:n.-99+31473_-99+31474del
ENST00000634433.1:c.1610_1611del	ENSP00000489431.1:p.Ser537CysfsTer7
NM_007294.3:c.1733_1734del , LRG_292t1:c.1733_1734del	NP_009225.1:p.Ser578CysfsTer7
NM_007297.3:c.1592_1593del	NP_009228.2:p.Ser531CysfsTer7
NM_007298.3:c.787+946_787+947del	NP_009229.2:n.787+946_787+947del
NM_007299.3:c.787+946_787+947del	NP_009230.2:n.787+946_787+947del
NM_007300.3:c.1733_1734del	NP_009231.2:p.Ser578CysfsTer7
NR_027676.1:n.1869_1870del
NM_007294.4:c.1733_1734del MANE Select	NP_009225.1:p.Ser578CysfsTer7
NM_007297.4:c.1592_1593del	NP_009228.2:p.Ser531CysfsTer7
NM_007299.4:c.787+946_787+947del	NP_009230.2:n.787+946_787+947del
NM_007300.4:c.1733_1734del	NP_009231.2:p.Ser578CysfsTer7
NR_027676.2:n.1910_1911del