Canonical Allele Identifier: CA2499224354

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1065961
• ClinVar RCV Id: RCV001376822
• dbSNP Id: rs2152911045

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049121_43049153del , CM000679.2:g.43049121_43049153del	GRCh38
NC_000017.10:g.41201138_41201170del , CM000679.1:g.41201138_41201170del	GRCh37
NC_000017.9:g.38454664_38454696del	NCBI36
NG_005905.2:g.168833_168865del , LRG_292:g.168833_168865del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5373_5403+2del
ENST00000470026.6:c.5376_5406+2del
ENST00000473961.6:c.5250_5280+2del
ENST00000476777.6:c.5370_5400+2del
ENST00000477152.6:c.5298_5328+2del
ENST00000478531.6:c.2064_2094+2del
ENST00000489037.2:c.5298_5328+2del
ENST00000493919.6:c.1926_1956+2del
ENST00000494123.6:c.5376_5406+2del
ENST00000497488.2:c.4488_4518+2del
ENST00000618469.2:c.5376_5406+2del
ENST00000634433.2:c.5253_5283+2del
ENST00000644379.2:c.5442_5472+2del
ENST00000644555.2:c.1926_1956+2del
ENST00000652672.2:c.5235_5265+2del
ENST00000484087.6:c.1938_1968+2del
ENST00000700081.1:n.1259_1289+2del
ENST00000357654.9:c.5376_5406+2del
ENST00000471181.7:c.5439_5469+2del
ENST00000644379.1:c.1763_1793+2del
ENST00000352993.7:c.1950_1980+2del
ENST00000357654.7:c.5376_5406+2del
ENST00000461221.5:c.*5159_*5189+2del
ENST00000468300.5:c.2021-1448_2021-1416del	ENSP00000417148.1:n.2021-1448_2021-1416de...
ENST00000471181.6:c.5439_5469+2del
ENST00000491747.6:c.2064_2094+2del
ENST00000493795.5:c.5235_5265+2del
ENST00000586385.5:c.306_336+2del
ENST00000591534.5:c.849_879+2del
ENST00000591849.5:c.75_105+2del
NM_007294.3:c.5376_5406+2del , LRG_292t1:c.5376_5406+2del
NM_007297.3:c.5235_5265+2del
NM_007298.3:c.2064_2094+2del
NM_007299.3:c.2021-1448_2021-1416del	NP_009230.2:n.2021-1448_2021-1416del
NM_007300.3:c.5439_5469+2del
NR_027676.1:n.5512_5542+2del
NM_007294.4:c.5376_5406+2del
NM_007297.4:c.5235_5265+2del
NM_007299.4:c.2021-1448_2021-1416del	NP_009230.2:n.2021-1448_2021-1416del
NM_007300.4:c.5439_5469+2del
NR_027676.2:n.5553_5583+2del