Canonical Allele Identifier: CA2580094142

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1778064
• ClinVar RCV Id: RCV002406124

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093842_43093887dup , CM000679.2:g.43093842_43093887dup	GRCh38
NC_000017.10:g.41245859_41245904dup , CM000679.1:g.41245859_41245904dup	GRCh37
NC_000017.9:g.38499385_38499430dup	NCBI36
NG_005905.2:g.124097_124142dup , LRG_292:g.124097_124142dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.1708_1753dup
ENST00000461574.2:c.1644_1689dup	ENSP00000417241.2:p.Asn564TyrfsTer2
ENST00000470026.6:c.1644_1689dup	ENSP00000419274.2:p.Asn564TyrfsTer2
ENST00000473961.6:c.1518_1563dup	ENSP00000420201.2:p.Asn522TyrfsTer2
ENST00000476777.6:c.1641_1686dup	ENSP00000417554.2:p.Asn563TyrfsTer2
ENST00000477152.6:c.1566_1611dup	ENSP00000419988.2:p.Asn538TyrfsTer2
ENST00000478531.6:c.784+857_784+902dup	ENSP00000420412.2:n.784+857_784+902dup
ENST00000489037.2:c.1566_1611dup	ENSP00000420781.2:p.Asn538TyrfsTer2
ENST00000493919.6:c.646+857_646+902dup	ENSP00000418819.2:n.646+857_646+902dup
ENST00000494123.6:c.1644_1689dup	ENSP00000419103.2:p.Asn564TyrfsTer2
ENST00000497488.2:c.756_801dup	ENSP00000418986.2:p.Asn268TyrfsTer2
ENST00000618469.2:c.1644_1689dup	ENSP00000478114.2:p.Asn564TyrfsTer2
ENST00000634433.2:c.1521_1566dup	ENSP00000489431.2:p.Asn523TyrfsTer2
ENST00000644379.2:c.1644_1689dup	ENSP00000496570.2:p.Asn564TyrfsTer2
ENST00000644555.2:c.646+857_646+902dup	ENSP00000494614.2:n.646+857_646+902dup
ENST00000652672.2:c.1503_1548dup	ENSP00000498906.2:p.Asn517TyrfsTer2
ENST00000484087.6:c.664+857_664+902dup	ENSP00000419481.2:n.664+857_664+902dup
ENST00000700182.1:c.706+857_706+902dup	ENSP00000514849.1:n.706+857_706+902dup
ENST00000357654.9:c.1644_1689dup MANE Select	ENSP00000350283.3:p.Asn564TyrfsTer2
ENST00000471181.7:c.1644_1689dup	ENSP00000418960.2:p.Asn564TyrfsTer2
ENST00000652672.1:c.1503_1548dup	ENSP00000498906.1:p.Asn517TyrfsTer2
ENST00000352993.7:c.670+1959_670+2004dup	ENSP00000312236.5:n.670+1959_670+2004dup
ENST00000354071.7:c.1644_1689dup	ENSP00000326002.7:p.Asn564TyrfsTer2
ENST00000357654.7:c.1644_1689dup	ENSP00000350283.3:p.Asn564TyrfsTer2
ENST00000412061.3:c.995_1040dup
ENST00000461221.5:c.*1427_*1472dup	ENSP00000418548.1:n.*1427_*1472dup
ENST00000468300.5:c.787+857_787+902dup	ENSP00000417148.1:n.787+857_787+902dup
ENST00000470026.5:c.1644_1689dup	ENSP00000419274.1:p.Asn564TyrfsTer2
ENST00000471181.6:c.1644_1689dup	ENSP00000418960.2:p.Asn564TyrfsTer2
ENST00000477152.5:c.1566_1611dup	ENSP00000419988.1:p.Asn538TyrfsTer2
ENST00000478531.5:c.784+857_784+902dup	ENSP00000420412.1:n.784+857_784+902dup
ENST00000484087.5:c.409+857_409+902dup	ENSP00000419481.1:n.409+857_409+902dup
ENST00000487825.5:c.412+857_412+902dup	ENSP00000418212.1:n.412+857_412+902dup
ENST00000491747.6:c.787+857_787+902dup	ENSP00000420705.2:n.787+857_787+902dup
ENST00000493795.5:c.1503_1548dup	ENSP00000418775.1:p.Asn517TyrfsTer2
ENST00000493919.5:c.646+857_646+902dup	ENSP00000418819.1:n.646+857_646+902dup
ENST00000586385.5:c.5-29936_5-29891dup	ENSP00000465818.1:n.5-29936_5-29891dup
ENST00000591534.5:c.-43-19366_-43-19321dup	ENSP00000467329.1:n.-43-19366_-43-19321du...
ENST00000591849.5:c.-99+31384_-99+31429dup	ENSP00000465347.1:n.-99+31384_-99+31429du...
ENST00000634433.1:c.1521_1566dup	ENSP00000489431.1:p.Asn523TyrfsTer2
NM_007294.3:c.1644_1689dup , LRG_292t1:c.1644_1689dup	NP_009225.1:p.Asn564TyrfsTer2
NM_007297.3:c.1503_1548dup	NP_009228.2:p.Asn517TyrfsTer2
NM_007298.3:c.787+857_787+902dup	NP_009229.2:n.787+857_787+902dup
NM_007299.3:c.787+857_787+902dup	NP_009230.2:n.787+857_787+902dup
NM_007300.3:c.1644_1689dup	NP_009231.2:p.Asn564TyrfsTer2
NR_027676.1:n.1780_1825dup
NM_007294.4:c.1644_1689dup MANE Select	NP_009225.1:p.Asn564TyrfsTer2
NM_007297.4:c.1503_1548dup	NP_009228.2:p.Asn517TyrfsTer2
NM_007299.4:c.787+857_787+902dup	NP_009230.2:n.787+857_787+902dup
NM_007300.4:c.1644_1689dup	NP_009231.2:p.Asn564TyrfsTer2
NR_027676.2:n.1821_1866dup