Canonical Allele Identifier: CA1139664799
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 987106
ClinVar RCV Id: RCV001268347

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094513_43094886del , CM000679.2:g.43094513_43094886del GRCh38
NC_000017.10:g.41246530_41246903del , CM000679.1:g.41246530_41246903del GRCh37
NC_000017.9:g.38500056_38500429del NCBI36
NG_005905.2:g.123098_123471del , LRG_292:g.123098_123471del

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.735-26_1082del
ENST00000461574.2:c.671-26_1018del
ENST00000470026.6:c.671-26_1018del
ENST00000473961.6:c.545-26_892del
ENST00000476777.6:c.668-26_1015del
ENST00000477152.6:c.593-26_940del
ENST00000478531.6:c.668-26_784+231del
ENST00000489037.2:c.593-26_940del
ENST00000493919.6:c.530-26_646+231del
ENST00000494123.6:c.671-26_1018del
ENST00000497488.2:c.-218-26_130del
ENST00000618469.2:c.671-26_1018del
ENST00000634433.2:c.548-26_895del
ENST00000644379.2:c.671-26_1018del
ENST00000644555.2:c.530-26_646+231del
ENST00000652672.2:c.530-26_877del
ENST00000484087.6:c.548-26_664+231del
ENST00000700182.1:c.590-26_706+231del
ENST00000700183.1:c.*679-26_*1026del
ENST00000357654.9:c.671-26_1018del
ENST00000471181.7:c.671-26_1018del
ENST00000642945.1:c.*545-26_*892del
ENST00000652672.1:c.530-26_877del
ENST00000352993.7:c.670+960_670+1333del ENSP00000312236.5:n.670+960_670+1333del
ENST00000354071.7:c.671-26_1018del
ENST00000357654.7:c.671-26_1018del
ENST00000412061.3:c.22-26_369del
ENST00000461221.5:c.*454-26_*801del
ENST00000468300.5:c.671-26_787+231del
ENST00000470026.5:c.671-26_1018del
ENST00000471181.6:c.671-26_1018del
ENST00000473961.5:c.268-26_615del
ENST00000477152.5:c.593-26_940del
ENST00000478531.5:c.668-26_784+231del
ENST00000484087.5:c.293-26_409+231del
ENST00000487825.5:c.296-26_412+231del
ENST00000491747.6:c.671-26_787+231del
ENST00000492859.5:c.*607-26_*954del
ENST00000493795.5:c.530-26_877del
ENST00000493919.5:c.530-26_646+231del
ENST00000494123.5:c.671-26_1018del
ENST00000497488.1:c.-218-26_130del
ENST00000586385.5:c.4+30296_5-30562del ENSP00000465818.1:n.4+30296_5-30562del
ENST00000591534.5:c.-43-20365_-43-19992del ENSP00000467329.1:n.-43-20365_-43-19992de...
ENST00000591849.5:c.-99+30385_-99+30758del ENSP00000465347.1:n.-99+30385_-99+30758de...
ENST00000634433.1:c.548-26_895del
NM_007294.3:c.671-26_1018del , LRG_292t1:c.671-26_1018del
NM_007297.3:c.530-26_877del
NM_007298.3:c.671-26_787+231del
NM_007299.3:c.671-26_787+231del
NM_007300.3:c.671-26_1018del
NR_027676.1:n.807-26_1154del
NM_007294.4:c.671-26_1018del
NM_007297.4:c.530-26_877del
NM_007299.4:c.671-26_787+231del
NM_007300.4:c.671-26_1018del
NR_027676.2:n.848-26_1195del