Canonical Allele Identifier: CA2580612615

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2573280
• ClinVar RCV Id: RCV003316969

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082445dup , CM000679.2:g.43082445dup	GRCh38
NC_000017.10:g.41234462dup , CM000679.1:g.41234462dup	GRCh37
NC_000017.9:g.38487988dup	NCBI36
NG_005905.2:g.135540dup , LRG_292:g.135540dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4317dup	ENSP00000417241.2:p.Glu1440Ter
ENST00000470026.6:c.4317dup	ENSP00000419274.2:p.Glu1440Ter
ENST00000473961.6:c.4191dup	ENSP00000420201.2:p.Glu1398Ter
ENST00000476777.6:c.4311dup	ENSP00000417554.2:p.Glu1438Ter
ENST00000477152.6:c.4239dup	ENSP00000419988.2:p.Glu1414Ter
ENST00000478531.6:c.1005dup	ENSP00000420412.2:p.Glu336Ter
ENST00000489037.2:c.4239dup	ENSP00000420781.2:p.Glu1414Ter
ENST00000493919.6:c.867dup	ENSP00000418819.2:p.Glu290Ter
ENST00000494123.6:c.4317dup	ENSP00000419103.2:p.Glu1440Ter
ENST00000497488.2:c.3429dup	ENSP00000418986.2:p.Glu1144Ter
ENST00000618469.2:c.4317dup	ENSP00000478114.2:p.Glu1440Ter
ENST00000634433.2:c.4194dup	ENSP00000489431.2:p.Glu1399Ter
ENST00000644379.2:c.4317dup	ENSP00000496570.2:p.Glu1440Ter
ENST00000644555.2:c.867dup	ENSP00000494614.2:p.Glu290Ter
ENST00000652672.2:c.4176dup	ENSP00000498906.2:p.Glu1393Ter
ENST00000484087.6:c.882dup	ENSP00000419481.2:p.Glu295Ter
ENST00000700182.1:c.927dup	ENSP00000514849.1:p.Glu310Ter
ENST00000357654.9:c.4317dup MANE Select	ENSP00000350283.3:p.Glu1440Ter
ENST00000471181.7:c.4317dup	ENSP00000418960.2:p.Glu1440Ter
ENST00000644379.1:c.638dup
ENST00000352993.7:c.891dup	ENSP00000312236.5:p.Glu298Ter
ENST00000357654.7:c.4317dup	ENSP00000350283.3:p.Glu1440Ter
ENST00000461221.5:c.*4100dup	ENSP00000418548.1:n.*4100dup
ENST00000461574.1:c.611dup
ENST00000468300.5:c.1008dup	ENSP00000417148.1:p.Glu337Ter
ENST00000471181.6:c.4317dup	ENSP00000418960.2:p.Glu1440Ter
ENST00000478531.5:c.1005dup	ENSP00000420412.1:p.Glu336Ter
ENST00000484087.5:c.630dup	ENSP00000419481.1:p.Glu211Ter
ENST00000487825.5:c.633dup	ENSP00000418212.1:p.Glu212Ter
ENST00000491747.6:c.1008dup	ENSP00000420705.2:p.Glu337Ter
ENST00000493795.5:c.4176dup	ENSP00000418775.1:p.Glu1393Ter
ENST00000493919.5:c.867dup	ENSP00000418819.1:p.Glu290Ter
ENST00000586385.5:c.5-18493dup	ENSP00000465818.1:n.5-18493dup
ENST00000591534.5:c.-43-7923dup	ENSP00000467329.1:n.-43-7923dup
ENST00000591849.5:c.-98-32254dup	ENSP00000465347.1:n.-98-32254dup
ENST00000621897.1:n.211dup
NM_007294.3:c.4317dup , LRG_292t1:c.4317dup	NP_009225.1:p.Glu1440Ter
NM_007297.3:c.4176dup	NP_009228.2:p.Glu1393Ter
NM_007298.3:c.1008dup	NP_009229.2:p.Glu337Ter
NM_007299.3:c.1008dup	NP_009230.2:p.Glu337Ter
NM_007300.3:c.4317dup	NP_009231.2:p.Glu1440Ter
NR_027676.1:n.4453dup
NM_007294.4:c.4317dup MANE Select	NP_009225.1:p.Glu1440Ter
NM_007297.4:c.4176dup	NP_009228.2:p.Glu1393Ter
NM_007299.4:c.1008dup	NP_009230.2:p.Glu337Ter
NM_007300.4:c.4317dup	NP_009231.2:p.Glu1440Ter
NR_027676.2:n.4494dup