Canonical Allele Identifier: CA2581463411
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43051066_43057138del , CM000679.2:g.43051066_43057138del GRCh38
NC_000017.10:g.41203083_41209155del , CM000679.1:g.41203083_41209155del GRCh37
NC_000017.9:g.38456609_38462681del NCBI36
NG_005905.2:g.160849_166921del , LRG_292:g.160849_166921del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.5191_5329del
ENST00000470026.6:c.5194_5332del
ENST00000473961.6:c.5068_5206del
ENST00000476777.6:c.5188_5326del
ENST00000477152.6:c.5116_5254del
ENST00000478531.6:c.1882_2020del
ENST00000489037.2:c.5116_5254del
ENST00000493919.6:c.1744_1882del
ENST00000494123.6:c.5194_5332del
ENST00000497488.2:c.4306_4444del
ENST00000618469.2:c.5194_5332del
ENST00000634433.2:c.5071_5209del
ENST00000644379.2:c.5260_5398del
ENST00000644555.2:c.1744_1882del
ENST00000652672.2:c.5053_5191del
ENST00000484087.6:c.1756_1894del
ENST00000357654.9:c.5194_5332del
ENST00000471181.7:c.5257_5395del
ENST00000644379.1:c.1581_1719del
ENST00000352993.7:c.1768_1906del
ENST00000357654.7:c.5194_5332del
ENST00000461221.5:c.*4977_*5115del
ENST00000468300.5:c.1882_2020del
ENST00000471181.6:c.5257_5395del
ENST00000491747.6:c.1882_2020del
ENST00000493795.5:c.5053_5191del
ENST00000586385.5:c.124_262del
ENST00000591534.5:c.667_805del
ENST00000591849.5:c.-98-6945_-98-873del ENSP00000465347.1:n.-98-6945_-98-873del
NM_007294.3:c.5194_5332del , LRG_292t1:c.5194_5332del
NM_007297.3:c.5053_5191del
NM_007298.3:c.1882_2020del
NM_007299.3:c.1882_2020del
NM_007300.3:c.5257_5395del
NR_027676.1:n.5330_5468del
NM_007294.4:c.5194_5332del
NM_007297.4:c.5053_5191del
NM_007299.4:c.1882_2020del
NM_007300.4:c.5257_5395del
NR_027676.2:n.5371_5509del