Canonical Allele Identifier: CA16043343
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43047300_43054953dup , CM000679.2:g.43047300_43054953dup GRCh38
NC_000017.10:g.41199317_41206970dup , CM000679.1:g.41199317_41206970dup GRCh37
NC_000017.9:g.38452843_38460496dup NCBI36
NG_005905.2:g.163032_170685dup , LRG_292:g.163032_170685dup

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.5274+2100_5464+344dup
ENST00000470026.6:c.5277+2100_5467+344dup
ENST00000473961.6:c.5151+2100_5341+344dup
ENST00000476777.6:c.5271+2100_5461+344dup
ENST00000477152.6:c.5199+2100_5389+344dup
ENST00000478531.6:c.1965+2100_2155+344dup
ENST00000489037.2:c.5199+2100_5389+344dup
ENST00000493919.6:c.1827+2100_2017+344dup
ENST00000494123.6:c.5277+2100_5467+344dup
ENST00000497488.2:c.4389+2100_4579+344dup
ENST00000618469.2:c.5277+2100_5467+344dup
ENST00000634433.2:c.5154+2100_5344+344dup
ENST00000644379.2:c.5343+2100_5533+344dup
ENST00000644555.2:c.1827+2100_2017+344dup
ENST00000652672.2:c.5136+2100_5326+344dup
ENST00000484087.6:c.1839+2100_2029+344dup
ENST00000357654.9:c.5277+2100_5467+344dup
ENST00000471181.7:c.5340+2100_5530+344dup
ENST00000644379.1:c.1664+2100_1854+344dup
ENST00000352993.7:c.1851+2100_2041+344dup
ENST00000357654.7:c.5277+2100_5467+344dup
ENST00000461221.5:c.*5060+2100_*5250+344dup
ENST00000468300.5:c.1965+2100_2081+344dup
ENST00000471181.6:c.5340+2100_5530+344dup
ENST00000491747.6:c.1965+2100_2155+344dup
ENST00000493795.5:c.5136+2100_5326+344dup
ENST00000586385.5:c.207+2100_397+344dup
ENST00000591534.5:c.750+2100_940+344dup
ENST00000591849.5:c.-98-4762_166+344dup
NM_007294.3:c.5277+2100_5467+344dup , LRG_292t1:c.5277+2100_5467+344dup
NM_007297.3:c.5136+2100_5326+344dup
NM_007298.3:c.1965+2100_2155+344dup
NM_007299.3:c.1965+2100_2081+344dup
NM_007300.3:c.5340+2100_5530+344dup
NR_027676.1:n.5413+2100_5603+344dup
NM_007294.4:c.5277+2100_5467+344dup
NM_007297.4:c.5136+2100_5326+344dup
NM_007299.4:c.1965+2100_2081+344dup
NM_007300.4:c.5340+2100_5530+344dup
NR_027676.2:n.5454+2100_5644+344dup