Canonical Allele Identifier: CA1139768279

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2822262
• ClinVar RCV Id: RCV003645664

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076507dup , CM000679.2:g.43076507dup	GRCh38
NC_000017.10:g.41228524dup , CM000679.1:g.41228524dup	GRCh37
NC_000017.9:g.38482050dup	NCBI36
NG_005905.2:g.141479dup , LRG_292:g.141479dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4464dup	ENSP00000417241.2:p.Glu1489ArgfsTer11
ENST00000470026.6:c.4467dup	ENSP00000419274.2:p.Glu1490ArgfsTer11
ENST00000473961.6:c.4341dup	ENSP00000420201.2:p.Glu1448ArgfsTer11
ENST00000476777.6:c.4461dup	ENSP00000417554.2:p.Glu1488ArgfsTer11
ENST00000477152.6:c.4389dup	ENSP00000419988.2:p.Glu1464ArgfsTer11
ENST00000478531.6:c.1155dup	ENSP00000420412.2:p.Glu386ArgfsTer11
ENST00000489037.2:c.4389dup	ENSP00000420781.2:p.Glu1464ArgfsTer11
ENST00000493919.6:c.1017dup	ENSP00000418819.2:p.Glu340ArgfsTer11
ENST00000494123.6:c.4467dup	ENSP00000419103.2:p.Glu1490ArgfsTer11
ENST00000497488.2:c.3579dup	ENSP00000418986.2:p.Glu1194ArgfsTer11
ENST00000618469.2:c.4467dup	ENSP00000478114.2:p.Glu1490ArgfsTer11
ENST00000634433.2:c.4344dup	ENSP00000489431.2:p.Glu1449ArgfsTer11
ENST00000644379.2:c.4533dup	ENSP00000496570.2:p.Glu1512ArgfsTer11
ENST00000644555.2:c.1017dup	ENSP00000494614.2:p.Glu340ArgfsTer11
ENST00000652672.2:c.4326dup	ENSP00000498906.2:p.Glu1443ArgfsTer11
ENST00000484087.6:c.1029dup	ENSP00000419481.2:p.Glu344ArgfsTer11
ENST00000700182.1:c.1074dup	ENSP00000514849.1:p.Glu359ArgfsTer11
ENST00000357654.9:c.4467dup MANE Select	ENSP00000350283.3:p.Glu1490ArgfsTer11
ENST00000471181.7:c.4530dup	ENSP00000418960.2:p.Glu1511ArgfsTer11
ENST00000644379.1:c.854dup
ENST00000352993.7:c.1041dup	ENSP00000312236.5:p.Glu348ArgfsTer11
ENST00000357654.7:c.4467dup	ENSP00000350283.3:p.Glu1490ArgfsTer11
ENST00000461221.5:c.*4250dup	ENSP00000418548.1:n.*4250dup
ENST00000468300.5:c.1155dup	ENSP00000417148.1:p.Glu386ArgfsTer11
ENST00000471181.6:c.4530dup	ENSP00000418960.2:p.Glu1511ArgfsTer11
ENST00000478531.5:c.1155dup	ENSP00000420412.1:p.Glu386ArgfsTer11
ENST00000484087.5:c.780dup	ENSP00000419481.1:p.Glu261ArgfsTer11
ENST00000487825.5:c.783dup	ENSP00000418212.1:p.Glu262ArgfsTer?
ENST00000491747.6:c.1155dup	ENSP00000420705.2:p.Glu386ArgfsTer11
ENST00000493795.5:c.4326dup	ENSP00000418775.1:p.Glu1443ArgfsTer11
ENST00000493919.5:c.1017dup	ENSP00000418819.1:p.Glu340ArgfsTer11
ENST00000586385.5:c.5-12554dup	ENSP00000465818.1:n.5-12554dup
ENST00000591534.5:c.-43-1984dup	ENSP00000467329.1:n.-43-1984dup
ENST00000591849.5:c.-98-26315dup	ENSP00000465347.1:n.-98-26315dup
ENST00000621897.1:n.358dup
NM_007294.3:c.4467dup , LRG_292t1:c.4467dup	NP_009225.1:p.Glu1490ArgfsTer11
NM_007297.3:c.4326dup	NP_009228.2:p.Glu1443ArgfsTer11
NM_007298.3:c.1155dup	NP_009229.2:p.Glu386ArgfsTer11
NM_007299.3:c.1155dup	NP_009230.2:p.Glu386ArgfsTer11
NM_007300.3:c.4530dup	NP_009231.2:p.Glu1511ArgfsTer11
NR_027676.1:n.4603dup
NM_007294.4:c.4467dup MANE Select	NP_009225.1:p.Glu1490ArgfsTer11
NM_007297.4:c.4326dup	NP_009228.2:p.Glu1443ArgfsTer11
NM_007299.4:c.1155dup	NP_009230.2:p.Glu386ArgfsTer11
NM_007300.4:c.4530dup	NP_009231.2:p.Glu1511ArgfsTer11
NR_027676.2:n.4644dup