Canonical Allele Identifier: CA2580612611
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43070192_43078360dup , CM000679.2:g.43070192_43078360dup GRCh38
NC_000017.10:g.41222209_41230377dup , CM000679.1:g.41222209_41230377dup GRCh37
NC_000017.9:g.38475735_38483903dup NCBI36
NG_005905.2:g.139624_147792dup , LRG_292:g.139624_147792dup

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.4358-1749_4983+736dup
ENST00000470026.6:c.4358-1746_4986+736dup
ENST00000473961.6:c.4232-1746_4860+736dup
ENST00000476777.6:c.4352-1746_4980+736dup
ENST00000477152.6:c.4280-1746_4908+736dup
ENST00000478531.6:c.1046-1746_1674+736dup
ENST00000489037.2:c.4280-1746_4908+736dup
ENST00000493919.6:c.908-1746_1536+736dup
ENST00000494123.6:c.4358-1746_4986+736dup
ENST00000497488.2:c.3470-1746_4098+736dup
ENST00000618469.2:c.4358-1746_4986+736dup
ENST00000634433.2:c.4235-1746_4863+736dup
ENST00000644379.2:c.4423+974_5052+736dup
ENST00000644555.2:c.908-1746_1536+736dup
ENST00000652672.2:c.4217-1746_4845+736dup
ENST00000484087.6:c.923-1749_1548+736dup
ENST00000357654.9:c.4358-1746_4986+736dup
ENST00000471181.7:c.4423+974_5049+736dup
ENST00000644379.1:c.744+974_1373+736dup
ENST00000352993.7:c.932-1746_1560+736dup
ENST00000357654.7:c.4358-1746_4986+736dup
ENST00000461221.5:c.*4141-1746_*4769+736dup
ENST00000468300.5:c.1049-1749_1674+736dup
ENST00000471181.6:c.4423+974_5049+736dup
ENST00000478531.5:c.1046-1746_1674+736dup
ENST00000484087.5:c.671-1746_1299+736dup
ENST00000491747.6:c.1049-1749_1674+736dup
ENST00000493795.5:c.4217-1746_4845+736dup
ENST00000493919.5:c.908-1746_1536+736dup
ENST00000586385.5:c.5-14409_5-6241dup ENSP00000465818.1:n.5-14409_5-6241dup
ENST00000591534.5:c.-43-3839_459+736dup
ENST00000591849.5:c.-98-28170_-98-20002dup ENSP00000465347.1:n.-98-28170_-98-20002du...
NM_007294.3:c.4358-1746_4986+736dup , LRG_292t1:c.4358-1746_4986+736dup
NM_007297.3:c.4217-1746_4845+736dup
NM_007298.3:c.1049-1749_1674+736dup
NM_007299.3:c.1049-1749_1674+736dup
NM_007300.3:c.4423+974_5049+736dup
NR_027676.1:n.4494-1746_5122+736dup
NM_007294.4:c.4358-1746_4986+736dup
NM_007297.4:c.4217-1746_4845+736dup
NM_007299.4:c.1049-1749_1674+736dup
NM_007300.4:c.4423+974_5049+736dup
NR_027676.2:n.4535-1746_5163+736dup