Canonical Allele Identifier: CA2697554269
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2755026
ClinVar RCV Id: RCV003531243

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43093631_43093640del , CM000679.2:g.43093631_43093640del GRCh38
NC_000017.10:g.41245648_41245657del , CM000679.1:g.41245648_41245657del GRCh37
NC_000017.9:g.38499174_38499183del NCBI36
NG_005905.2:g.124348_124357del , LRG_292:g.124348_124357del

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.1959_1968del
ENST00000461574.2:c.1895_1904del ENSP00000417241.2:p.Ser632IlefsTer16
ENST00000470026.6:c.1895_1904del ENSP00000419274.2:p.Ser632IlefsTer16
ENST00000473961.6:c.1769_1778del ENSP00000420201.2:p.Ser590IlefsTer16
ENST00000476777.6:c.1892_1901del ENSP00000417554.2:p.Ser631IlefsTer16
ENST00000477152.6:c.1817_1826del ENSP00000419988.2:p.Ser606IlefsTer16
ENST00000478531.6:c.784+1108_784+1117del ENSP00000420412.2:n.784+1108_784+1117del
ENST00000489037.2:c.1817_1826del ENSP00000420781.2:p.Ser606IlefsTer16
ENST00000493919.6:c.646+1108_646+1117del ENSP00000418819.2:n.646+1108_646+1117del
ENST00000494123.6:c.1895_1904del ENSP00000419103.2:p.Ser632IlefsTer16
ENST00000497488.2:c.1007_1016del ENSP00000418986.2:p.Ser336IlefsTer16
ENST00000618469.2:c.1895_1904del ENSP00000478114.2:p.Ser632IlefsTer16
ENST00000634433.2:c.1772_1781del ENSP00000489431.2:p.Ser591IlefsTer16
ENST00000644379.2:c.1895_1904del ENSP00000496570.2:p.Ser632IlefsTer16
ENST00000644555.2:c.646+1108_646+1117del ENSP00000494614.2:n.646+1108_646+1117del
ENST00000652672.2:c.1754_1763del ENSP00000498906.2:p.Ser585IlefsTer16
ENST00000484087.6:c.664+1108_664+1117del ENSP00000419481.2:n.664+1108_664+1117del
ENST00000700182.1:c.706+1108_706+1117del ENSP00000514849.1:n.706+1108_706+1117del
ENST00000357654.9:c.1895_1904del MANE Select ENSP00000350283.3:p.Ser632IlefsTer16
ENST00000471181.7:c.1895_1904del ENSP00000418960.2:p.Ser632IlefsTer16
ENST00000652672.1:c.1754_1763del ENSP00000498906.1:p.Ser585IlefsTer?
ENST00000352993.7:c.670+2210_670+2219del ENSP00000312236.5:n.670+2210_670+2219del
ENST00000354071.7:c.1895_1904del ENSP00000326002.7:p.Ser632IlefsTer16
ENST00000357654.7:c.1895_1904del ENSP00000350283.3:p.Ser632IlefsTer16
ENST00000412061.3:c.1246_1255del
ENST00000461221.5:c.*1678_*1687del ENSP00000418548.1:n.*1678_*1687del
ENST00000468300.5:c.787+1108_787+1117del ENSP00000417148.1:n.787+1108_787+1117del
ENST00000470026.5:c.1895_1904del ENSP00000419274.1:p.Ser632IlefsTer?
ENST00000471181.6:c.1895_1904del ENSP00000418960.2:p.Ser632IlefsTer16
ENST00000477152.5:c.1817_1826del ENSP00000419988.1:p.Ser606IlefsTer?
ENST00000478531.5:c.784+1108_784+1117del ENSP00000420412.1:n.784+1108_784+1117del
ENST00000484087.5:c.409+1108_409+1117del ENSP00000419481.1:n.409+1108_409+1117del
ENST00000487825.5:c.412+1108_412+1117del ENSP00000418212.1:n.412+1108_412+1117del
ENST00000491747.6:c.787+1108_787+1117del ENSP00000420705.2:n.787+1108_787+1117del
ENST00000493795.5:c.1754_1763del ENSP00000418775.1:p.Ser585IlefsTer16
ENST00000493919.5:c.646+1108_646+1117del ENSP00000418819.1:n.646+1108_646+1117del
ENST00000586385.5:c.5-29685_5-29676del ENSP00000465818.1:n.5-29685_5-29676del
ENST00000591534.5:c.-43-19115_-43-19106del ENSP00000467329.1:n.-43-19115_-43-19106de...
ENST00000591849.5:c.-99+31635_-99+31644del ENSP00000465347.1:n.-99+31635_-99+31644de...
ENST00000634433.1:c.1772_1781del ENSP00000489431.1:p.Ser591IlefsTer16
NM_007294.3:c.1895_1904del , LRG_292t1:c.1895_1904del NP_009225.1:p.Ser632IlefsTer16
NM_007297.3:c.1754_1763del NP_009228.2:p.Ser585IlefsTer16
NM_007298.3:c.787+1108_787+1117del NP_009229.2:n.787+1108_787+1117del
NM_007299.3:c.787+1108_787+1117del NP_009230.2:n.787+1108_787+1117del
NM_007300.3:c.1895_1904del NP_009231.2:p.Ser632IlefsTer16
NR_027676.1:n.2031_2040del
NM_007294.4:c.1895_1904del MANE Select NP_009225.1:p.Ser632IlefsTer16
NM_007297.4:c.1754_1763del NP_009228.2:p.Ser585IlefsTer16
NM_007299.4:c.787+1108_787+1117del NP_009230.2:n.787+1108_787+1117del
NM_007300.4:c.1895_1904del NP_009231.2:p.Ser632IlefsTer16
NR_027676.2:n.2072_2081del