Canonical Allele Identifier: CA16616887

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 417825
• ClinVar RCV Id: RCV000477855 ; RCV000510055
• dbSNP Id: rs80357600
• MyVariant Identifiers: chr17:g.41245874dupT (hg19) ; chr17:g.41245873_41245874insT (hg19) ; chr17:g.43093857dupT (hg38) ; chr17:g.43093856_43093857insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093860dup , CM000679.2:g.43093860dup	GRCh38
NC_000017.10:g.41245877dup , CM000679.1:g.41245877dup	GRCh37
NC_000017.9:g.38499403dup	NCBI36
NG_005905.2:g.124127dup , LRG_292:g.124127dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1738dup
ENST00000461574.2:c.1674dup	ENSP00000417241.2:p.Gly559ArgfsTer2
ENST00000470026.6:c.1674dup	ENSP00000419274.2:p.Gly559ArgfsTer2
ENST00000473961.6:c.1548dup	ENSP00000420201.2:p.Gly517ArgfsTer2
ENST00000476777.6:c.1671dup	ENSP00000417554.2:p.Gly558ArgfsTer2
ENST00000477152.6:c.1596dup	ENSP00000419988.2:p.Gly533ArgfsTer2
ENST00000478531.6:c.784+887dup	ENSP00000420412.2:n.784+887dup
ENST00000489037.2:c.1596dup	ENSP00000420781.2:p.Gly533ArgfsTer2
ENST00000493919.6:c.646+887dup	ENSP00000418819.2:n.646+887dup
ENST00000494123.6:c.1674dup	ENSP00000419103.2:p.Gly559ArgfsTer2
ENST00000497488.2:c.786dup	ENSP00000418986.2:p.Gly263ArgfsTer2
ENST00000618469.2:c.1674dup	ENSP00000478114.2:p.Gly559ArgfsTer2
ENST00000634433.2:c.1551dup	ENSP00000489431.2:p.Gly518ArgfsTer2
ENST00000644379.2:c.1674dup	ENSP00000496570.2:p.Gly559ArgfsTer2
ENST00000644555.2:c.646+887dup	ENSP00000494614.2:n.646+887dup
ENST00000652672.2:c.1533dup	ENSP00000498906.2:p.Gly512ArgfsTer2
ENST00000484087.6:c.664+887dup	ENSP00000419481.2:n.664+887dup
ENST00000700182.1:c.706+887dup	ENSP00000514849.1:n.706+887dup
ENST00000357654.9:c.1674dup MANE Select	ENSP00000350283.3:p.Gly559ArgfsTer2
ENST00000471181.7:c.1674dup	ENSP00000418960.2:p.Gly559ArgfsTer2
ENST00000652672.1:c.1533dup	ENSP00000498906.1:p.Gly512ArgfsTer2
ENST00000352993.7:c.670+1989dup	ENSP00000312236.5:n.670+1989dup
ENST00000354071.7:c.1674dup	ENSP00000326002.7:p.Gly559ArgfsTer2
ENST00000357654.7:c.1674dup	ENSP00000350283.3:p.Gly559ArgfsTer2
ENST00000412061.3:c.1025dup
ENST00000461221.5:c.*1457dup	ENSP00000418548.1:n.*1457dup
ENST00000468300.5:c.787+887dup	ENSP00000417148.1:n.787+887dup
ENST00000470026.5:c.1674dup	ENSP00000419274.1:p.Gly559ArgfsTer2
ENST00000471181.6:c.1674dup	ENSP00000418960.2:p.Gly559ArgfsTer2
ENST00000477152.5:c.1596dup	ENSP00000419988.1:p.Gly533ArgfsTer2
ENST00000478531.5:c.784+887dup	ENSP00000420412.1:n.784+887dup
ENST00000484087.5:c.409+887dup	ENSP00000419481.1:n.409+887dup
ENST00000487825.5:c.412+887dup	ENSP00000418212.1:n.412+887dup
ENST00000491747.6:c.787+887dup	ENSP00000420705.2:n.787+887dup
ENST00000493795.5:c.1533dup	ENSP00000418775.1:p.Gly512ArgfsTer2
ENST00000493919.5:c.646+887dup	ENSP00000418819.1:n.646+887dup
ENST00000586385.5:c.5-29906dup	ENSP00000465818.1:n.5-29906dup
ENST00000591534.5:c.-43-19336dup	ENSP00000467329.1:n.-43-19336dup
ENST00000591849.5:c.-99+31414dup	ENSP00000465347.1:n.-99+31414dup
ENST00000634433.1:c.1551dup	ENSP00000489431.1:p.Gly518ArgfsTer2
NM_007294.3:c.1674dup , LRG_292t1:c.1674dup	NP_009225.1:p.Gly559ArgfsTer2
NM_007297.3:c.1533dup	NP_009228.2:p.Gly512ArgfsTer2
NM_007298.3:c.787+887dup	NP_009229.2:n.787+887dup
NM_007299.3:c.787+887dup	NP_009230.2:n.787+887dup
NM_007300.3:c.1674dup	NP_009231.2:p.Gly559ArgfsTer2
NR_027676.1:n.1810dup
NM_007294.4:c.1674dup MANE Select	NP_009225.1:p.Gly559ArgfsTer2
NM_007297.4:c.1533dup	NP_009228.2:p.Gly512ArgfsTer2
NM_007299.4:c.787+887dup	NP_009230.2:n.787+887dup
NM_007300.4:c.1674dup	NP_009231.2:p.Gly559ArgfsTer2
NR_027676.2:n.1851dup