Canonical Allele Identifier: CA2697559964

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2774825
• ClinVar RCV Id: RCV003586010

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43051058_43051071del , CM000679.2:g.43051058_43051071del	GRCh38
NC_000017.10:g.41203075_41203088del , CM000679.1:g.41203075_41203088del	GRCh37
NC_000017.9:g.38456601_38456614del	NCBI36
NG_005905.2:g.166913_166926del , LRG_292:g.166913_166926del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5321_5329+5del
ENST00000470026.6:c.5324_5332+5del
ENST00000473961.6:c.5198_5206+5del
ENST00000476777.6:c.5318_5326+5del
ENST00000477152.6:c.5246_5254+5del
ENST00000478531.6:c.2012_2020+5del
ENST00000489037.2:c.5246_5254+5del
ENST00000493919.6:c.1874_1882+5del
ENST00000494123.6:c.5324_5332+5del
ENST00000497488.2:c.4436_4444+5del
ENST00000618469.2:c.5324_5332+5del
ENST00000634433.2:c.5201_5209+5del
ENST00000644379.2:c.5390_5398+5del
ENST00000644555.2:c.1874_1882+5del
ENST00000652672.2:c.5183_5191+5del
ENST00000484087.6:c.1886_1894+5del
ENST00000357654.9:c.5324_5332+5del
ENST00000471181.7:c.5387_5395+5del
ENST00000644379.1:c.1711_1719+5del
ENST00000352993.7:c.1898_1906+5del
ENST00000357654.7:c.5324_5332+5del
ENST00000461221.5:c.*5107_*5115+5del
ENST00000468300.5:c.2012_2020+5del
ENST00000471181.6:c.5387_5395+5del
ENST00000491747.6:c.2012_2020+5del
ENST00000493795.5:c.5183_5191+5del
ENST00000586385.5:c.254_262+5del
ENST00000591534.5:c.797_805+5del
ENST00000591849.5:c.-98-881_-98-868del	ENSP00000465347.1:n.-98-881_-98-868del
NM_007294.3:c.5324_5332+5del , LRG_292t1:c.5324_5332+5del
NM_007297.3:c.5183_5191+5del
NM_007298.3:c.2012_2020+5del
NM_007299.3:c.2012_2020+5del
NM_007300.3:c.5387_5395+5del
NR_027676.1:n.5460_5468+5del
NM_007294.4:c.5324_5332+5del
NM_007297.4:c.5183_5191+5del
NM_007299.4:c.2012_2020+5del
NM_007300.4:c.5387_5395+5del
NR_027676.2:n.5501_5509+5del