Canonical Allele Identifier: CA16609627
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43078282_43084361dup , CM000679.2:g.43078282_43084361dup GRCh38
NC_000017.10:g.41230299_41236378dup , CM000679.1:g.41230299_41236378dup GRCh37
NC_000017.9:g.38483825_38489904dup NCBI36
NG_005905.2:g.133626_139705dup , LRG_292:g.133626_139705dup

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.4186-1783_4358-1668dup
ENST00000470026.6:c.4186-1783_4358-1665dup
ENST00000473961.6:c.4060-1783_4232-1665dup
ENST00000476777.6:c.4183-1786_4352-1665dup
ENST00000477152.6:c.4108-1783_4280-1665dup
ENST00000478531.6:c.874-1783_1046-1665dup
ENST00000489037.2:c.4108-1783_4280-1665dup
ENST00000493919.6:c.736-1783_908-1665dup
ENST00000494123.6:c.4186-1783_4358-1665dup
ENST00000497488.2:c.3298-1783_3470-1665dup
ENST00000618469.2:c.4186-1783_4358-1665dup
ENST00000634433.2:c.4063-1783_4235-1665dup
ENST00000644379.2:c.4186-1783_4423+1055dup
ENST00000644555.2:c.736-1783_908-1665dup
ENST00000652672.2:c.4045-1783_4217-1665dup
ENST00000484087.6:c.754-1786_923-1668dup
ENST00000700182.1:c.796-1783_968-1668dup
ENST00000357654.9:c.4186-1783_4358-1665dup
ENST00000471181.7:c.4186-1783_4423+1055dup
ENST00000644379.1:c.507-1783_744+1055dup
ENST00000352993.7:c.760-1783_932-1665dup
ENST00000357654.7:c.4186-1783_4358-1665dup
ENST00000461221.5:c.*3969-1783_*4141-1665dup
ENST00000461574.1:c.480-1783_652-1668dup
ENST00000468300.5:c.877-1783_1049-1668dup
ENST00000471181.6:c.4186-1783_4423+1055dup
ENST00000478531.5:c.874-1783_1046-1665dup
ENST00000484087.5:c.499-1783_671-1665dup
ENST00000487825.5:c.502-1783_674-1665dup
ENST00000491747.6:c.877-1783_1049-1668dup
ENST00000493795.5:c.4045-1783_4217-1665dup
ENST00000493919.5:c.736-1783_908-1665dup
ENST00000586385.5:c.5-20407_5-14328dup ENSP00000465818.1:n.5-20407_5-14328dup
ENST00000591534.5:c.-43-9837_-43-3758dup ENSP00000467329.1:n.-43-9837_-43-3758dup
ENST00000591849.5:c.-98-34168_-98-28089dup ENSP00000465347.1:n.-98-34168_-98-28089du...
NM_007294.3:c.4186-1783_4358-1665dup , LRG_292t1:c.4186-1783_4358-1665dup
NM_007297.3:c.4045-1783_4217-1665dup
NM_007298.3:c.877-1783_1049-1668dup
NM_007299.3:c.877-1783_1049-1668dup
NM_007300.3:c.4186-1783_4423+1055dup
NR_027676.1:n.4322-1783_4494-1665dup
NM_007294.4:c.4186-1783_4358-1665dup
NM_007297.4:c.4045-1783_4217-1665dup
NM_007299.4:c.877-1783_1049-1668dup
NM_007300.4:c.4186-1783_4423+1055dup
NR_027676.2:n.4363-1783_4535-1665dup