Canonical Allele Identifier: CA913203498

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047679_43049196del , CM000679.2:g.43047679_43049196del	GRCh38
NC_000017.10:g.41199696_41201213del , CM000679.1:g.41199696_41201213del	GRCh37
NC_000017.9:g.38453222_38454739del	NCBI36
NG_005905.2:g.168790_170307del , LRG_292:g.168790_170307del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5330_5430del
ENST00000470026.6:c.5333_5433del
ENST00000473961.6:c.5207_5307del
ENST00000476777.6:c.5327_5427del
ENST00000477152.6:c.5255_5355del
ENST00000478531.6:c.2021_2121del
ENST00000489037.2:c.5255_5355del
ENST00000493919.6:c.1883_1983del
ENST00000494123.6:c.5333_5433del
ENST00000497488.2:c.4445_4545del
ENST00000618469.2:c.5333_5433del
ENST00000634433.2:c.5210_5310del
ENST00000644379.2:c.5399_5499del
ENST00000644555.2:c.1883_1983del
ENST00000652672.2:c.5192_5292del
ENST00000484087.6:c.1895_1995del
ENST00000700081.1:n.1216_1316del
ENST00000357654.9:c.5333_5433del
ENST00000471181.7:c.5396_5496del
ENST00000644379.1:c.1720_1820del
ENST00000352993.7:c.1907_2007del
ENST00000357654.7:c.5333_5433del
ENST00000461221.5:c.*5116_*5216del
ENST00000468300.5:c.2021-1491_2047del
ENST00000471181.6:c.5396_5496del
ENST00000491747.6:c.2021_2121del
ENST00000493795.5:c.5192_5292del
ENST00000586385.5:c.263_363del
ENST00000591534.5:c.806_906del
ENST00000591849.5:c.32_132del
NM_007294.3:c.5333_5433del , LRG_292t1:c.5333_5433del
NM_007297.3:c.5192_5292del
NM_007298.3:c.2021_2121del
NM_007299.3:c.2021-1491_2047del
NM_007300.3:c.5396_5496del
NR_027676.1:n.5469_5569del
NM_007294.4:c.5333_5433del
NM_007297.4:c.5192_5292del
NM_007299.4:c.2021-1491_2047del
NM_007300.4:c.5396_5496del
NR_027676.2:n.5510_5610del