Canonical Allele Identifier: CA913189458
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43057052_43063333del , CM000679.2:g.43057052_43063333del GRCh38
NC_000017.10:g.41209069_41215350del , CM000679.1:g.41209069_41215350del GRCh37
NC_000017.9:g.38462595_38468876del NCBI36
NG_005905.2:g.154652_160933del , LRG_292:g.154652_160933del

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5190+1_5274+1del
ENST00000470026.6:c.5193+1_5277+1del
ENST00000473961.6:c.5067+1_5151+1del
ENST00000476777.6:c.5187+1_5271+1del
ENST00000477152.6:c.5115+1_5199+1del
ENST00000478531.6:c.1881+1_1965+1del
ENST00000489037.2:c.5115+1_5199+1del
ENST00000493919.6:c.1743+1_1827+1del
ENST00000494123.6:c.5193+1_5277+1del
ENST00000497488.2:c.4305+1_4389+1del
ENST00000618469.2:c.5193+1_5277+1del
ENST00000634433.2:c.5070+1_5154+1del
ENST00000644379.2:c.5259+1_5343+1del
ENST00000644555.2:c.1743+1_1827+1del
ENST00000652672.2:c.5052+1_5136+1del
ENST00000484087.6:c.1755+1_1839+1del
ENST00000357654.9:c.5193+1_5277+1del
ENST00000471181.7:c.5256+1_5340+1del
ENST00000644379.1:c.1580+1_1664+1del
ENST00000352993.7:c.1767+1_1851+1del
ENST00000357654.7:c.5193+1_5277+1del
ENST00000461221.5:c.*4976+1_*5060+1del
ENST00000468300.5:c.1881+1_1965+1del
ENST00000471181.6:c.5256+1_5340+1del
ENST00000491747.6:c.1881+1_1965+1del
ENST00000493795.5:c.5052+1_5136+1del
ENST00000586385.5:c.123+1_207+1del
ENST00000591534.5:c.666+1_750+1del
ENST00000591849.5:c.-98-13142_-98-6861del ENSP00000465347.1:n.-98-13142_-98-6861del
NM_007294.3:c.5193+1_5277+1del , LRG_292t1:c.5193+1_5277+1del
NM_007297.3:c.5052+1_5136+1del
NM_007298.3:c.1881+1_1965+1del
NM_007299.3:c.1881+1_1965+1del
NM_007300.3:c.5256+1_5340+1del
NR_027676.1:n.5329+1_5413+1del
NM_007294.4:c.5193+1_5277+1del
NM_007297.4:c.5052+1_5136+1del
NM_007299.4:c.1881+1_1965+1del
NM_007300.4:c.5256+1_5340+1del
NR_027676.2:n.5370+1_5454+1del