Canonical Allele Identifier: CA2499224351

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1049843
• ClinVar RCV Id: RCV001356463
• dbSNP Id: rs2152876889

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43048720_43049230del , CM000679.2:g.43048720_43049230del	GRCh38
NC_000017.10:g.41200737_41201247del , CM000679.1:g.41200737_41201247del	GRCh37
NC_000017.9:g.38454263_38454773del	NCBI36
NG_005905.2:g.168754_169264del , LRG_292:g.168754_169264del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5330-36_5403+401del
ENST00000470026.6:c.5333-36_5406+401del
ENST00000473961.6:c.5207-36_5280+401del
ENST00000476777.6:c.5327-36_5400+401del
ENST00000477152.6:c.5255-36_5328+401del
ENST00000478531.6:c.2021-36_2094+401del
ENST00000489037.2:c.5255-36_5328+401del
ENST00000493919.6:c.1883-36_1956+401del
ENST00000494123.6:c.5333-36_5406+401del
ENST00000497488.2:c.4445-36_4518+401del
ENST00000618469.2:c.5333-36_5406+401del
ENST00000634433.2:c.5210-36_5283+401del
ENST00000644379.2:c.5399-36_5472+401del
ENST00000644555.2:c.1883-36_1956+401del
ENST00000652672.2:c.5192-36_5265+401del
ENST00000484087.6:c.1895-36_1968+401del
ENST00000700081.1:n.1180_1289+401del
ENST00000357654.9:c.5333-36_5406+401del
ENST00000471181.7:c.5396-36_5469+401del
ENST00000644379.1:c.1720-36_1793+401del
ENST00000352993.7:c.1907-36_1980+401del
ENST00000357654.7:c.5333-36_5406+401del
ENST00000461221.5:c.*5116-36_*5189+401del
ENST00000468300.5:c.2021-1527_2021-1017del	ENSP00000417148.1:n.2021-1527_2021-1017de...
ENST00000471181.6:c.5396-36_5469+401del
ENST00000491747.6:c.2021-36_2094+401del
ENST00000493795.5:c.5192-36_5265+401del
ENST00000586385.5:c.263-36_336+401del
ENST00000591534.5:c.806-36_879+401del
ENST00000591849.5:c.32-36_105+401del
NM_007294.3:c.5333-36_5406+401del , LRG_292t1:c.5333-36_5406+401del
NM_007297.3:c.5192-36_5265+401del
NM_007298.3:c.2021-36_2094+401del
NM_007299.3:c.2021-1527_2021-1017del	NP_009230.2:n.2021-1527_2021-1017del
NM_007300.3:c.5396-36_5469+401del
NR_027676.1:n.5469-36_5542+401del
NM_007294.4:c.5333-36_5406+401del
NM_007297.4:c.5192-36_5265+401del
NM_007299.4:c.2021-1527_2021-1017del	NP_009230.2:n.2021-1527_2021-1017del
NM_007300.4:c.5396-36_5469+401del
NR_027676.2:n.5510-36_5583+401del