Canonical Allele Identifier: CA2579756134
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091435_43094858dup , CM000679.2:g.43091435_43094858dup GRCh38
NC_000017.10:g.41243452_41246875dup , CM000679.1:g.41243452_41246875dup GRCh37
NC_000017.9:g.38496978_38500401dup NCBI36
NG_005905.2:g.123127_126550dup , LRG_292:g.123127_126550dup

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.738_4161dup
ENST00000461574.2:c.674_4096+1dup
ENST00000470026.6:c.674_4096+1dup
ENST00000473961.6:c.548_3970+1dup
ENST00000476777.6:c.671_4093+1dup
ENST00000477152.6:c.596_4018+1dup
ENST00000478531.6:c.671_785-402dup
ENST00000489037.2:c.596_4018+1dup
ENST00000493919.6:c.533_647-402dup
ENST00000494123.6:c.674_4096+1dup
ENST00000497488.2:c.-215_3208+1dup
ENST00000618469.2:c.674_4096+1dup
ENST00000634433.2:c.551_3973+1dup
ENST00000644379.2:c.674_4096+1dup
ENST00000644555.2:c.533_647-402dup
ENST00000652672.2:c.533_3955+1dup
ENST00000484087.6:c.551_665-402dup
ENST00000700182.1:c.593_707-402dup
ENST00000357654.9:c.674_4096+1dup
ENST00000471181.7:c.674_4096+1dup
ENST00000352993.7:c.670+989_671-402dup ENSP00000312236.5:n.670+989_671-402dup
ENST00000354071.7:c.674_4097dup ENSP00000326002.7:p.Ile1367LeufsTer2
ENST00000357654.7:c.674_4096+1dup
ENST00000461221.5:c.*457_*3879+1dup
ENST00000468300.5:c.674_788-402dup
ENST00000471181.6:c.674_4096+1dup
ENST00000478531.5:c.671_785-402dup
ENST00000484087.5:c.296_410-402dup
ENST00000487825.5:c.299_413-402dup
ENST00000491747.6:c.674_788-402dup
ENST00000493795.5:c.533_3955+1dup
ENST00000493919.5:c.533_647-402dup
ENST00000586385.5:c.4+30325_5-27483dup ENSP00000465818.1:n.4+30325_5-27483dup
ENST00000591534.5:c.-43-20336_-43-16913dup ENSP00000467329.1:n.-43-20336_-43-16913du...
ENST00000591849.5:c.-99+30414_-99+33837dup ENSP00000465347.1:n.-99+30414_-99+33837du...
NM_007294.3:c.674_4096+1dup , LRG_292t1:c.674_4096+1dup
NM_007297.3:c.533_3955+1dup
NM_007298.3:c.674_788-402dup
NM_007299.3:c.674_788-402dup
NM_007300.3:c.674_4096+1dup
NR_027676.1:n.810_4232+1dup
NM_007294.4:c.674_4096+1dup
NM_007297.4:c.533_3955+1dup
NM_007299.4:c.674_788-402dup
NM_007300.4:c.674_4096+1dup
NR_027676.2:n.851_4273+1dup