Canonical Allele Identifier: CA3060570735
Community Standard Title: NC_000017.11:g.43057051_43057136del
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43057051_43057136del , CM000679.2:g.43057051_43057136del GRCh38
NC_000017.10:g.41209068_41209153del , CM000679.1:g.41209068_41209153del GRCh37
NC_000017.9:g.38462594_38462679del NCBI36
NG_005905.2:g.160848_160933del , LRG_292:g.160848_160933del

Transcript Alleles

HGVS Amino-acid Change
NM_007294.3:c.5194-1_5277+1del , LRG_292t1:c.5194-1_5277+1del
NM_007294.4:c.5194-1_5277+1del
NM_007297.3:c.5053-1_5136+1del
NM_007297.4:c.5053-1_5136+1del
NM_007298.3:c.1882-1_1965+1del
NM_007299.3:c.1882-1_1965+1del
NM_007299.4:c.1882-1_1965+1del
NM_007300.3:c.5257-1_5340+1del
NM_007300.4:c.5257-1_5340+1del
NR_027676.1:n.5330-1_5413+1del
NR_027676.2:n.5371-1_5454+1del
ENST00000352993.7:c.1768-1_1851+1del
ENST00000357654.7:c.5194-1_5277+1del
ENST00000357654.9:c.5194-1_5277+1del
ENST00000461221.5:c.*4977-1_*5060+1del
ENST00000461574.2:c.5191-1_5274+1del
ENST00000468300.5:c.1882-1_1965+1del
ENST00000470026.6:c.5194-1_5277+1del
ENST00000471181.6:c.5257-1_5340+1del
ENST00000471181.7:c.5257-1_5340+1del
ENST00000473961.6:c.5068-1_5151+1del
ENST00000476777.6:c.5188-1_5271+1del
ENST00000477152.6:c.5116-1_5199+1del
ENST00000478531.6:c.1882-1_1965+1del
ENST00000484087.6:c.1756-1_1839+1del
ENST00000489037.2:c.5116-1_5199+1del
ENST00000491747.6:c.1882-1_1965+1del
ENST00000493795.5:c.5053-1_5136+1del
ENST00000493919.6:c.1744-1_1827+1del
ENST00000494123.6:c.5194-1_5277+1del
ENST00000497488.2:c.4306-1_4389+1del
ENST00000586385.5:c.124-1_207+1del
ENST00000591534.5:c.667-1_750+1del
ENST00000591849.5:c.-98-6946_-98-6861del ENSP00000465347.1:n.-98-6946_-98-6861del
ENST00000618469.2:c.5194-1_5277+1del
ENST00000634433.2:c.5071-1_5154+1del
ENST00000644379.1:c.1581-1_1664+1del
ENST00000644379.2:c.5260-1_5343+1del
ENST00000644555.2:c.1744-1_1827+1del
ENST00000652672.2:c.5053-1_5136+1del