Canonical Allele Identifier: CA2697559912
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2709512
ClinVar RCV Id: RCV003530589

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43063863_43063926dup , CM000679.2:g.43063863_43063926dup GRCh38
NC_000017.10:g.41215880_41215943dup , CM000679.1:g.41215880_41215943dup GRCh37
NC_000017.9:g.38469406_38469469dup NCBI36
NG_005905.2:g.154061_154124dup , LRG_292:g.154061_154124dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5100_5149+14dup
ENST00000470026.6:c.5103_5152+14dup
ENST00000473961.6:c.4977_5026+14dup
ENST00000476777.6:c.5097_5146+14dup
ENST00000477152.6:c.5025_5074+14dup
ENST00000478531.6:c.1791_1840+14dup
ENST00000489037.2:c.5025_5074+14dup
ENST00000493919.6:c.1653_1702+14dup
ENST00000494123.6:c.5103_5152+14dup
ENST00000497488.2:c.4215_4264+14dup
ENST00000618469.2:c.5103_5152+14dup
ENST00000634433.2:c.4980_5029+14dup
ENST00000644379.2:c.5169_5218+14dup
ENST00000644555.2:c.1653_1702+14dup
ENST00000652672.2:c.4962_5011+14dup
ENST00000484087.6:c.1665_1714+14dup
ENST00000357654.9:c.5103_5152+14dup
ENST00000471181.7:c.5166_5215+14dup
ENST00000644379.1:c.1490_1539+14dup
ENST00000352993.7:c.1677_1726+14dup
ENST00000357654.7:c.5103_5152+14dup
ENST00000461221.5:c.*4886_*4935+14dup
ENST00000468300.5:c.1791_1840+14dup
ENST00000471181.6:c.5166_5215+14dup
ENST00000478531.5:c.1791_1840+14dup
ENST00000484087.5:c.1416_1465+14dup
ENST00000491747.6:c.1791_1840+14dup
ENST00000493795.5:c.4962_5011+14dup
ENST00000493919.5:c.1653_1702+14dup
ENST00000586385.5:c.33_82+14dup
ENST00000591534.5:c.576_625+14dup
ENST00000591849.5:c.-98-13733_-98-13670dup ENSP00000465347.1:n.-98-13733_-98-13670dup
NM_007294.3:c.5103_5152+14dup , LRG_292t1:c.5103_5152+14dup
NM_007297.3:c.4962_5011+14dup
NM_007298.3:c.1791_1840+14dup
NM_007299.3:c.1791_1840+14dup
NM_007300.3:c.5166_5215+14dup
NR_027676.1:n.5239_5288+14dup
NM_007294.4:c.5103_5152+14dup
NM_007297.4:c.4962_5011+14dup
NM_007299.4:c.1791_1840+14dup
NM_007300.4:c.5166_5215+14dup
NR_027676.2:n.5280_5329+14dup