Canonical Allele Identifier: CA916079884
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43057133_43063930del , CM000679.2:g.43057133_43063930del GRCh38
NC_000017.10:g.41209150_41215947del , CM000679.1:g.41209150_41215947del GRCh37
NC_000017.9:g.38462676_38469473del NCBI36
NG_005905.2:g.154055_160852del , LRG_292:g.154055_160852del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.5094_5194del
ENST00000470026.6:c.5097_5197del
ENST00000473961.6:c.4971_5071del
ENST00000476777.6:c.5091_5191del
ENST00000477152.6:c.5019_5119del
ENST00000478531.6:c.1785_1885del
ENST00000489037.2:c.5019_5119del
ENST00000493919.6:c.1647_1747del
ENST00000494123.6:c.5097_5197del
ENST00000497488.2:c.4209_4309del
ENST00000618469.2:c.5097_5197del
ENST00000634433.2:c.4974_5074del
ENST00000644379.2:c.5163_5263del
ENST00000644555.2:c.1647_1747del
ENST00000652672.2:c.4956_5056del
ENST00000484087.6:c.1659_1759del
ENST00000357654.9:c.5097_5197del
ENST00000471181.7:c.5160_5260del
ENST00000644379.1:c.1484_1584del
ENST00000352993.7:c.1671_1771del
ENST00000357654.7:c.5097_5197del
ENST00000461221.5:c.*4880_*4980del
ENST00000468300.5:c.1785_1885del
ENST00000471181.6:c.5160_5260del
ENST00000491747.6:c.1785_1885del
ENST00000493795.5:c.4956_5056del
ENST00000586385.5:c.27_127del
ENST00000591534.5:c.570_670del
ENST00000591849.5:c.-98-13739_-98-6942del ENSP00000465347.1:n.-98-13739_-98-6942del...
NM_007294.3:c.5097_5197del , LRG_292t1:c.5097_5197del
NM_007297.3:c.4956_5056del
NM_007298.3:c.1785_1885del
NM_007299.3:c.1785_1885del
NM_007300.3:c.5160_5260del
NR_027676.1:n.5233_5333del
NM_007294.4:c.5097_5197del
NM_007297.4:c.4956_5056del
NM_007299.4:c.1785_1885del
NM_007300.4:c.5160_5260del
NR_027676.2:n.5274_5374del