Canonical Allele Identifier: CA1139768316

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1070907
• ClinVar RCV Id: RCV001383234
• dbSNP Id: rs876659867

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057130dup , CM000679.2:g.43057130dup	GRCh38
NC_000017.10:g.41209147dup , CM000679.1:g.41209147dup	GRCh37
NC_000017.9:g.38462673dup	NCBI36
NG_005905.2:g.160857dup , LRG_292:g.160857dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5199dup	ENSP00000417241.2:p.Glu1734Ter
ENST00000470026.6:c.5202dup	ENSP00000419274.2:p.Glu1735Ter
ENST00000473961.6:c.5076dup	ENSP00000420201.2:p.Glu1693Ter
ENST00000476777.6:c.5196dup	ENSP00000417554.2:p.Glu1733Ter
ENST00000477152.6:c.5124dup	ENSP00000419988.2:p.Glu1709Ter
ENST00000478531.6:c.1890dup	ENSP00000420412.2:p.Glu631Ter
ENST00000489037.2:c.5124dup	ENSP00000420781.2:p.Glu1709Ter
ENST00000493919.6:c.1752dup	ENSP00000418819.2:p.Glu585Ter
ENST00000494123.6:c.5202dup	ENSP00000419103.2:p.Glu1735Ter
ENST00000497488.2:c.4314dup	ENSP00000418986.2:p.Glu1439Ter
ENST00000618469.2:c.5202dup	ENSP00000478114.2:p.Glu1735Ter
ENST00000634433.2:c.5079dup	ENSP00000489431.2:p.Glu1694Ter
ENST00000644379.2:c.5268dup	ENSP00000496570.2:p.Glu1757Ter
ENST00000644555.2:c.1752dup	ENSP00000494614.2:p.Glu585Ter
ENST00000652672.2:c.5061dup	ENSP00000498906.2:p.Glu1688Ter
ENST00000484087.6:c.1764dup	ENSP00000419481.2:p.Glu589Ter
ENST00000357654.9:c.5202dup MANE Select	ENSP00000350283.3:p.Glu1735Ter
ENST00000471181.7:c.5265dup	ENSP00000418960.2:p.Glu1756Ter
ENST00000644379.1:c.1589dup
ENST00000352993.7:c.1776dup	ENSP00000312236.5:p.Glu593Ter
ENST00000357654.7:c.5202dup	ENSP00000350283.3:p.Glu1735Ter
ENST00000461221.5:c.*4985dup	ENSP00000418548.1:n.*4985dup
ENST00000468300.5:c.1890dup	ENSP00000417148.1:p.Glu631Ter
ENST00000471181.6:c.5265dup	ENSP00000418960.2:p.Glu1756Ter
ENST00000491747.6:c.1890dup	ENSP00000420705.2:p.Glu631Ter
ENST00000493795.5:c.5061dup	ENSP00000418775.1:p.Glu1688Ter
ENST00000586385.5:c.132dup	ENSP00000465818.1:p.Glu45Ter
ENST00000591534.5:c.675dup	ENSP00000467329.1:p.Glu226Ter
ENST00000591849.5:c.-98-6937dup	ENSP00000465347.1:n.-98-6937dup
NM_007294.3:c.5202dup , LRG_292t1:c.5202dup	NP_009225.1:p.Glu1735Ter
NM_007297.3:c.5061dup	NP_009228.2:p.Glu1688Ter
NM_007298.3:c.1890dup	NP_009229.2:p.Glu631Ter
NM_007299.3:c.1890dup	NP_009230.2:p.Glu631Ter
NM_007300.3:c.5265dup	NP_009231.2:p.Glu1756Ter
NR_027676.1:n.5338dup
NM_007294.4:c.5202dup MANE Select	NP_009225.1:p.Glu1735Ter
NM_007297.4:c.5061dup	NP_009228.2:p.Glu1688Ter
NM_007299.4:c.1890dup	NP_009230.2:p.Glu631Ter
NM_007300.4:c.5265dup	NP_009231.2:p.Glu1756Ter
NR_027676.2:n.5379dup