Canonical Allele Identifier: CA913191183

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 598936
• ClinVar RCV Id: RCV000782286

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43048600_43054827del , CM000679.2:g.43048600_43054827del	GRCh38
NC_000017.10:g.41200617_41206844del , CM000679.1:g.41200617_41206844del	GRCh37
NC_000017.9:g.38454143_38460370del	NCBI36
NG_005905.2:g.163181_169408del , LRG_292:g.163181_169408del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5274+2249_5403+545del
ENST00000470026.6:c.5277+2249_5406+545del
ENST00000473961.6:c.5151+2249_5280+545del
ENST00000476777.6:c.5271+2249_5400+545del
ENST00000477152.6:c.5199+2249_5328+545del
ENST00000478531.6:c.1965+2249_2094+545del
ENST00000489037.2:c.5199+2249_5328+545del
ENST00000493919.6:c.1827+2249_1956+545del
ENST00000494123.6:c.5277+2249_5406+545del
ENST00000497488.2:c.4389+2249_4518+545del
ENST00000618469.2:c.5277+2249_5406+545del
ENST00000634433.2:c.5154+2249_5283+545del
ENST00000644379.2:c.5343+2249_5472+545del
ENST00000644555.2:c.1827+2249_1956+545del
ENST00000652672.2:c.5136+2249_5265+545del
ENST00000484087.6:c.1839+2249_1968+545del
ENST00000357654.9:c.5277+2249_5406+545del
ENST00000471181.7:c.5340+2249_5469+545del
ENST00000644379.1:c.1664+2249_1793+545del
ENST00000352993.7:c.1851+2249_1980+545del
ENST00000357654.7:c.5277+2249_5406+545del
ENST00000461221.5:c.*5060+2249_*5189+545del
ENST00000468300.5:c.1965+2249_2021-873del
ENST00000471181.6:c.5340+2249_5469+545del
ENST00000491747.6:c.1965+2249_2094+545del
ENST00000493795.5:c.5136+2249_5265+545del
ENST00000586385.5:c.207+2249_336+545del
ENST00000591534.5:c.750+2249_879+545del
ENST00000591849.5:c.-98-4613_105+545del
NM_007294.3:c.5277+2249_5406+545del , LRG_292t1:c.5277+2249_5406+545del
NM_007297.3:c.5136+2249_5265+545del
NM_007298.3:c.1965+2249_2094+545del
NM_007299.3:c.1965+2249_2021-873del
NM_007300.3:c.5340+2249_5469+545del
NR_027676.1:n.5413+2249_5542+545del
NM_007294.4:c.5277+2249_5406+545del
NM_007297.4:c.5136+2249_5265+545del
NM_007299.4:c.1965+2249_2021-873del
NM_007300.4:c.5340+2249_5469+545del
NR_027676.2:n.5454+2249_5583+545del