Canonical Allele Identifier: CA16043348
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 373849
ClinVar RCV Id: RCV000413209

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43064935_43070038del , CM000679.2:g.43064935_43070038del GRCh38
NC_000017.10:g.41216952_41222055del , CM000679.1:g.41216952_41222055del GRCh37
NC_000017.9:g.38470478_38475581del NCBI36
NG_005905.2:g.147946_153049del , LRG_292:g.147946_153049del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.4983+890_5072-984del
ENST00000470026.6:c.4986+890_5075-984del
ENST00000473961.6:c.4860+890_4949-984del
ENST00000476777.6:c.4980+890_5069-984del
ENST00000477152.6:c.4908+890_4997-984del
ENST00000478531.6:c.1674+890_1763-984del
ENST00000489037.2:c.4908+890_4997-984del
ENST00000493919.6:c.1536+890_1625-984del
ENST00000494123.6:c.4986+890_5075-984del
ENST00000497488.2:c.4098+890_4187-984del
ENST00000618469.2:c.4986+890_5075-984del
ENST00000634433.2:c.4863+890_4952-984del
ENST00000644379.2:c.5052+890_5141-984del
ENST00000644555.2:c.1536+890_1625-984del
ENST00000652672.2:c.4845+890_4934-984del
ENST00000484087.6:c.1548+890_1637-984del
ENST00000357654.9:c.4986+890_5075-984del
ENST00000471181.7:c.5049+890_5138-984del
ENST00000644379.1:c.1373+890_1462-984del
ENST00000352993.7:c.1560+890_1649-984del
ENST00000357654.7:c.4986+890_5075-984del
ENST00000461221.5:c.*4769+890_*4858-984del
ENST00000468300.5:c.1674+890_1763-984del
ENST00000471181.6:c.5049+890_5138-984del
ENST00000478531.5:c.1674+890_1763-984del
ENST00000484087.5:c.1299+890_1388-984del
ENST00000491747.6:c.1674+890_1763-984del
ENST00000493795.5:c.4845+890_4934-984del
ENST00000493919.5:c.1536+890_1625-984del
ENST00000586385.5:c.5-6087_5-984del ENSP00000465818.1:n.5-6087_5-984del
ENST00000591534.5:c.459+890_548-984del
ENST00000591849.5:c.-98-19848_-98-14745del ENSP00000465347.1:n.-98-19848_-98-14745de...
NM_007294.3:c.4986+890_5075-984del , LRG_292t1:c.4986+890_5075-984del
NM_007297.3:c.4845+890_4934-984del
NM_007298.3:c.1674+890_1763-984del
NM_007299.3:c.1674+890_1763-984del
NM_007300.3:c.5049+890_5138-984del
NR_027676.1:n.5122+890_5211-984del
NM_007294.4:c.4986+890_5075-984del
NM_007297.4:c.4845+890_4934-984del
NM_007299.4:c.1674+890_1763-984del
NM_007300.4:c.5049+890_5138-984del
NR_027676.2:n.5163+890_5252-984del