Canonical Allele Identifier: CA001112

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 125508
• ClinVar RCV Id: RCV000111666 ; RCV000502858 ; RCV004019597
• dbSNP Id: rs80357784
• gnomAD v4: 17-43093830-A-AT
• MyVariant Identifiers: chr17:g.41245848dupT (hg19) ; chr17:g.41245847_41245848insT (hg19) ; chr17:g.43093831dupT (hg38) ; chr17:g.43093830_43093831insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093835dup , CM000679.2:g.43093835dup	GRCh38
NC_000017.10:g.41245852dup , CM000679.1:g.41245852dup	GRCh37
NC_000017.9:g.38499378dup	NCBI36
NG_005905.2:g.124153dup , LRG_292:g.124153dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1764dup
ENST00000461574.2:c.1700dup	ENSP00000417241.2:p.Asn567LysfsTer3
ENST00000470026.6:c.1700dup	ENSP00000419274.2:p.Asn567LysfsTer3
ENST00000473961.6:c.1574dup	ENSP00000420201.2:p.Asn525LysfsTer3
ENST00000476777.6:c.1697dup	ENSP00000417554.2:p.Asn566LysfsTer3
ENST00000477152.6:c.1622dup	ENSP00000419988.2:p.Asn541LysfsTer3
ENST00000478531.6:c.784+913dup	ENSP00000420412.2:n.784+913dup
ENST00000489037.2:c.1622dup	ENSP00000420781.2:p.Asn541LysfsTer3
ENST00000493919.6:c.646+913dup	ENSP00000418819.2:n.646+913dup
ENST00000494123.6:c.1700dup	ENSP00000419103.2:p.Asn567LysfsTer3
ENST00000497488.2:c.812dup	ENSP00000418986.2:p.Asn271LysfsTer3
ENST00000618469.2:c.1700dup	ENSP00000478114.2:p.Asn567LysfsTer3
ENST00000634433.2:c.1577dup	ENSP00000489431.2:p.Asn526LysfsTer3
ENST00000644379.2:c.1700dup	ENSP00000496570.2:p.Asn567LysfsTer3
ENST00000644555.2:c.646+913dup	ENSP00000494614.2:n.646+913dup
ENST00000652672.2:c.1559dup	ENSP00000498906.2:p.Asn520LysfsTer3
ENST00000484087.6:c.664+913dup	ENSP00000419481.2:n.664+913dup
ENST00000700182.1:c.706+913dup	ENSP00000514849.1:n.706+913dup
ENST00000357654.9:c.1700dup MANE Select	ENSP00000350283.3:p.Asn567LysfsTer3
ENST00000471181.7:c.1700dup	ENSP00000418960.2:p.Asn567LysfsTer3
ENST00000652672.1:c.1559dup	ENSP00000498906.1:p.Asn520LysfsTer3
ENST00000352993.7:c.670+2015dup	ENSP00000312236.5:n.670+2015dup
ENST00000354071.7:c.1700dup	ENSP00000326002.7:p.Asn567LysfsTer3
ENST00000357654.7:c.1700dup	ENSP00000350283.3:p.Asn567LysfsTer3
ENST00000412061.3:c.1051dup
ENST00000461221.5:c.*1483dup	ENSP00000418548.1:n.*1483dup
ENST00000468300.5:c.787+913dup	ENSP00000417148.1:n.787+913dup
ENST00000470026.5:c.1700dup	ENSP00000419274.1:p.Asn567LysfsTer3
ENST00000471181.6:c.1700dup	ENSP00000418960.2:p.Asn567LysfsTer3
ENST00000477152.5:c.1622dup	ENSP00000419988.1:p.Asn541LysfsTer3
ENST00000478531.5:c.784+913dup	ENSP00000420412.1:n.784+913dup
ENST00000484087.5:c.409+913dup	ENSP00000419481.1:n.409+913dup
ENST00000487825.5:c.412+913dup	ENSP00000418212.1:n.412+913dup
ENST00000491747.6:c.787+913dup	ENSP00000420705.2:n.787+913dup
ENST00000493795.5:c.1559dup	ENSP00000418775.1:p.Asn520LysfsTer3
ENST00000493919.5:c.646+913dup	ENSP00000418819.1:n.646+913dup
ENST00000586385.5:c.5-29880dup	ENSP00000465818.1:n.5-29880dup
ENST00000591534.5:c.-43-19310dup	ENSP00000467329.1:n.-43-19310dup
ENST00000591849.5:c.-99+31440dup	ENSP00000465347.1:n.-99+31440dup
ENST00000634433.1:c.1577dup	ENSP00000489431.1:p.Asn526LysfsTer3
NM_007294.3:c.1700dup , LRG_292t1:c.1700dup	NP_009225.1:p.Asn567LysfsTer3
NM_007297.3:c.1559dup	NP_009228.2:p.Asn520LysfsTer3
NM_007298.3:c.787+913dup	NP_009229.2:n.787+913dup
NM_007299.3:c.787+913dup	NP_009230.2:n.787+913dup
NM_007300.3:c.1700dup	NP_009231.2:p.Asn567LysfsTer3
NR_027676.1:n.1836dup
NM_007294.4:c.1700dup MANE Select	NP_009225.1:p.Asn567LysfsTer3
NM_007297.4:c.1559dup	NP_009228.2:p.Asn520LysfsTer3
NM_007299.4:c.787+913dup	NP_009230.2:n.787+913dup
NM_007300.4:c.1700dup	NP_009231.2:p.Asn567LysfsTer3
NR_027676.2:n.1877dup