Canonical Allele Identifier: CA10589640

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266501
• ClinVar RCV Id: RCV000257572
• dbSNP Id: rs886040253
• MyVariant Identifiers: chr17:g.41223053dupA (hg19) ; chr17:g.41223052_41223053insA (hg19) ; chr17:g.43071036dupA (hg38) ; chr17:g.43071035_43071036insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071036dup , CM000679.2:g.43071036dup	GRCh38
NC_000017.10:g.41223053dup , CM000679.1:g.41223053dup	GRCh37
NC_000017.9:g.38476579dup	NCBI36
NG_005905.2:g.146948dup , LRG_292:g.146948dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4875dup	ENSP00000417241.2:p.Ala1626CysfsTer?
ENST00000470026.6:c.4878dup	ENSP00000419274.2:p.Ala1627CysfsTer?
ENST00000473961.6:c.4752dup	ENSP00000420201.2:p.Ala1585CysfsTer?
ENST00000476777.6:c.4872dup	ENSP00000417554.2:p.Ala1625CysfsTer?
ENST00000477152.6:c.4800dup	ENSP00000419988.2:p.Ala1601CysfsTer?
ENST00000478531.6:c.1566dup	ENSP00000420412.2:p.Ala523CysfsTer?
ENST00000489037.2:c.4800dup	ENSP00000420781.2:p.Ala1601CysfsTer?
ENST00000493919.6:c.1428dup	ENSP00000418819.2:p.Ala477CysfsTer?
ENST00000494123.6:c.4878dup	ENSP00000419103.2:p.Ala1627CysfsTer?
ENST00000497488.2:c.3990dup	ENSP00000418986.2:p.Ala1331CysfsTer?
ENST00000618469.2:c.4878dup	ENSP00000478114.2:p.Ala1627CysfsTer?
ENST00000634433.2:c.4755dup	ENSP00000489431.2:p.Ala1586CysfsTer?
ENST00000644379.2:c.4944dup	ENSP00000496570.2:p.Ala1649CysfsTer?
ENST00000644555.2:c.1428dup	ENSP00000494614.2:p.Ala477CysfsTer?
ENST00000652672.2:c.4737dup	ENSP00000498906.2:p.Ala1580CysfsTer?
ENST00000484087.6:c.1440dup	ENSP00000419481.2:p.Ala481CysfsTer?
ENST00000700182.1:c.1485dup	ENSP00000514849.1:p.Ala496CysfsTer?
ENST00000357654.9:c.4878dup MANE Select	ENSP00000350283.3:p.Ala1627CysfsTer?
ENST00000471181.7:c.4941dup	ENSP00000418960.2:p.Ala1648CysfsTer?
ENST00000644379.1:c.1265dup
ENST00000352993.7:c.1452dup	ENSP00000312236.5:p.Ala485CysfsTer?
ENST00000357654.7:c.4878dup	ENSP00000350283.3:p.Ala1627CysfsTer?
ENST00000461221.5:c.*4661dup	ENSP00000418548.1:n.*4661dup
ENST00000468300.5:c.1566dup	ENSP00000417148.1:p.Ala523CysfsTer?
ENST00000471181.6:c.4941dup	ENSP00000418960.2:p.Ala1648CysfsTer?
ENST00000472490.1:n.31dup
ENST00000478531.5:c.1566dup	ENSP00000420412.1:p.Ala523CysfsTer?
ENST00000484087.5:c.1191dup	ENSP00000419481.1:p.Ala398CysfsTer?
ENST00000491747.6:c.1566dup	ENSP00000420705.2:p.Ala523CysfsTer?
ENST00000493795.5:c.4737dup	ENSP00000418775.1:p.Ala1580CysfsTer?
ENST00000493919.5:c.1428dup	ENSP00000418819.1:p.Ala477CysfsTer?
ENST00000586385.5:c.5-7085dup	ENSP00000465818.1:n.5-7085dup
ENST00000591534.5:c.351dup	ENSP00000467329.1:p.Ala118CysfsTer?
ENST00000591849.5:c.-98-20846dup	ENSP00000465347.1:n.-98-20846dup
NM_007294.3:c.4878dup , LRG_292t1:c.4878dup	NP_009225.1:p.Ala1627CysfsTer?
NM_007297.3:c.4737dup	NP_009228.2:p.Ala1580CysfsTer?
NM_007298.3:c.1566dup	NP_009229.2:p.Ala523CysfsTer?
NM_007299.3:c.1566dup	NP_009230.2:p.Ala523CysfsTer?
NM_007300.3:c.4941dup	NP_009231.2:p.Ala1648CysfsTer?
NR_027676.1:n.5014dup
NM_007294.4:c.4878dup MANE Select	NP_009225.1:p.Ala1627CysfsTer?
NM_007297.4:c.4737dup	NP_009228.2:p.Ala1580CysfsTer?
NM_007299.4:c.1566dup	NP_009230.2:p.Ala523CysfsTer?
NM_007300.4:c.4941dup	NP_009231.2:p.Ala1648CysfsTer?
NR_027676.2:n.5055dup