Canonical Allele Identifier: CA915940399

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045658_43051137del , CM000679.2:g.43045658_43051137del	GRCh38
NC_000017.10:g.41197675_41203154del , CM000679.1:g.41197675_41203154del	GRCh37
NC_000017.9:g.38451201_38456680del	NCBI36
NG_005905.2:g.166847_172326del , LRG_292:g.166847_172326del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5275-20_*20del
ENST00000470026.6:c.5278-20_*20del
ENST00000473961.6:c.5152-20_*20del
ENST00000476777.6:c.5272-20_*20del
ENST00000477152.6:c.5200-20_*20del
ENST00000478531.6:c.1966-20_*20del
ENST00000489037.2:c.5200-20_*20del
ENST00000493919.6:c.1828-20_*20del
ENST00000494123.6:c.5278-20_*20del
ENST00000497488.2:c.4390-20_*20del
ENST00000618469.2:c.5278-20_*20del
ENST00000634433.2:c.5155-20_*20del
ENST00000644379.2:c.5344-20_*20del
ENST00000644555.2:c.1828-20_*20del
ENST00000652672.2:c.5137-20_*20del
ENST00000484087.6:c.1840-20_*20del
ENST00000357654.9:c.5278-20_*20del
ENST00000471181.7:c.5341-20_*20del
ENST00000644379.1:c.1665-20_1999del
ENST00000352993.7:c.1852-20_*20del
ENST00000357654.7:c.5278-20_*20del
ENST00000468300.5:c.1966-20_*126del
ENST00000471181.6:c.5341-20_*20del
ENST00000493795.5:c.5137-20_*20del
ENST00000586385.5:c.208-20_*20del
ENST00000591534.5:c.751-20_*20del
ENST00000591849.5:c.-98-947_*20del
NM_007294.3:c.5278-20_*20del , LRG_292t1:c.5278-20_*20del
NM_007297.3:c.5137-20_*20del
NM_007298.3:c.1966-20_*20del
NM_007299.3:c.1966-20_*126del
NM_007300.3:c.5341-20_*20del
NR_027676.1:n.5414-20_5748del
NM_007294.4:c.5278-20_*20del
NM_007297.4:c.5137-20_*20del
NM_007299.4:c.1966-20_*126del
NM_007300.4:c.5341-20_*20del
NR_027676.2:n.5455-20_5789del