Canonical Allele Identifier: CA10589639

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266502
• ClinVar RCV Id: RCV000256707 ; RCV000769713 ; RCV001859516
• dbSNP Id: rs886040254
• MyVariant Identifiers: chr17:g.41223046dupC (hg19) ; chr17:g.41223045_41223046insC (hg19) ; chr17:g.43071029dupC (hg38) ; chr17:g.43071028_43071029insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071030dup , CM000679.2:g.43071030dup	GRCh38
NC_000017.10:g.41223047dup , CM000679.1:g.41223047dup	GRCh37
NC_000017.9:g.38476573dup	NCBI36
NG_005905.2:g.146955dup , LRG_292:g.146955dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4882dup	ENSP00000417241.2:p.Glu1628GlyfsTer?
ENST00000470026.6:c.4885dup	ENSP00000419274.2:p.Glu1629GlyfsTer?
ENST00000473961.6:c.4759dup	ENSP00000420201.2:p.Glu1587GlyfsTer?
ENST00000476777.6:c.4879dup	ENSP00000417554.2:p.Glu1627GlyfsTer?
ENST00000477152.6:c.4807dup	ENSP00000419988.2:p.Glu1603GlyfsTer?
ENST00000478531.6:c.1573dup	ENSP00000420412.2:p.Glu525GlyfsTer?
ENST00000489037.2:c.4807dup	ENSP00000420781.2:p.Glu1603GlyfsTer?
ENST00000493919.6:c.1435dup	ENSP00000418819.2:p.Glu479GlyfsTer?
ENST00000494123.6:c.4885dup	ENSP00000419103.2:p.Glu1629GlyfsTer?
ENST00000497488.2:c.3997dup	ENSP00000418986.2:p.Glu1333GlyfsTer?
ENST00000618469.2:c.4885dup	ENSP00000478114.2:p.Glu1629GlyfsTer?
ENST00000634433.2:c.4762dup	ENSP00000489431.2:p.Glu1588GlyfsTer?
ENST00000644379.2:c.4951dup	ENSP00000496570.2:p.Glu1651GlyfsTer?
ENST00000644555.2:c.1435dup	ENSP00000494614.2:p.Glu479GlyfsTer?
ENST00000652672.2:c.4744dup	ENSP00000498906.2:p.Glu1582GlyfsTer?
ENST00000484087.6:c.1447dup	ENSP00000419481.2:p.Glu483GlyfsTer?
ENST00000700182.1:c.1492dup	ENSP00000514849.1:p.Glu498GlyfsTer?
ENST00000357654.9:c.4885dup MANE Select	ENSP00000350283.3:p.Glu1629GlyfsTer?
ENST00000471181.7:c.4948dup	ENSP00000418960.2:p.Glu1650GlyfsTer?
ENST00000644379.1:c.1272dup
ENST00000352993.7:c.1459dup	ENSP00000312236.5:p.Glu487GlyfsTer?
ENST00000357654.7:c.4885dup	ENSP00000350283.3:p.Glu1629GlyfsTer?
ENST00000461221.5:c.*4668dup	ENSP00000418548.1:n.*4668dup
ENST00000468300.5:c.1573dup	ENSP00000417148.1:p.Glu525GlyfsTer?
ENST00000471181.6:c.4948dup	ENSP00000418960.2:p.Glu1650GlyfsTer?
ENST00000472490.1:n.38dup
ENST00000478531.5:c.1573dup	ENSP00000420412.1:p.Glu525GlyfsTer?
ENST00000484087.5:c.1198dup	ENSP00000419481.1:p.Glu400GlyfsTer?
ENST00000491747.6:c.1573dup	ENSP00000420705.2:p.Glu525GlyfsTer?
ENST00000493795.5:c.4744dup	ENSP00000418775.1:p.Glu1582GlyfsTer?
ENST00000493919.5:c.1435dup	ENSP00000418819.1:p.Glu479GlyfsTer?
ENST00000586385.5:c.5-7078dup	ENSP00000465818.1:n.5-7078dup
ENST00000591534.5:c.358dup	ENSP00000467329.1:p.Glu120GlyfsTer?
ENST00000591849.5:c.-98-20839dup	ENSP00000465347.1:n.-98-20839dup
NM_007294.3:c.4885dup , LRG_292t1:c.4885dup	NP_009225.1:p.Glu1629GlyfsTer?
NM_007297.3:c.4744dup	NP_009228.2:p.Glu1582GlyfsTer?
NM_007298.3:c.1573dup	NP_009229.2:p.Glu525GlyfsTer?
NM_007299.3:c.1573dup	NP_009230.2:p.Glu525GlyfsTer?
NM_007300.3:c.4948dup	NP_009231.2:p.Glu1650GlyfsTer?
NR_027676.1:n.5021dup
NM_007294.4:c.4885dup MANE Select	NP_009225.1:p.Glu1629GlyfsTer?
NM_007297.4:c.4744dup	NP_009228.2:p.Glu1582GlyfsTer?
NM_007299.4:c.1573dup	NP_009230.2:p.Glu525GlyfsTer?
NM_007300.4:c.4948dup	NP_009231.2:p.Glu1650GlyfsTer?
NR_027676.2:n.5062dup