Canonical Allele Identifier: CA2260783884
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43093364_43093365delinsTG , CM000679.2:g.43093364_43093365delinsTG GRCh38
NC_000017.10:g.41245381_41245382delinsTG , CM000679.1:g.41245381_41245382delinsTG GRCh37
NC_000017.9:g.38498907_38498908delinsTG NCBI36
NG_005905.2:g.124619_124620delinsCA , LRG_292:g.124619_124620delinsCA

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.2230_2231delinsCA
ENST00000461574.2:c.2166_2167delinsCA ENSP00000417241.2:p.Val722=
ENST00000470026.6:c.2166_2167delinsCA ENSP00000419274.2:p.Val722=
ENST00000473961.6:c.2040_2041delinsCA ENSP00000420201.2:p.Val680=
ENST00000476777.6:c.2163_2164delinsCA ENSP00000417554.2:p.Val721=
ENST00000477152.6:c.2088_2089delinsCA ENSP00000419988.2:p.Val696=
ENST00000478531.6:c.784+1379_784+1380delinsCA ENSP00000420412.2:n.784+1379_784+1380deli...
ENST00000489037.2:c.2088_2089delinsCA ENSP00000420781.2:p.Val696=
ENST00000493919.6:c.646+1379_646+1380delinsCA ENSP00000418819.2:n.646+1379_646+1380deli...
ENST00000494123.6:c.2166_2167delinsCA ENSP00000419103.2:p.Val722=
ENST00000497488.2:c.1278_1279delinsCA ENSP00000418986.2:p.Val426=
ENST00000618469.2:c.2166_2167delinsCA ENSP00000478114.2:p.Val722=
ENST00000634433.2:c.2043_2044delinsCA ENSP00000489431.2:p.Val681=
ENST00000644379.2:c.2166_2167delinsCA ENSP00000496570.2:p.Val722=
ENST00000644555.2:c.646+1379_646+1380delinsCA ENSP00000494614.2:n.646+1379_646+1380deli...
ENST00000652672.2:c.2025_2026delinsCA ENSP00000498906.2:p.Val675=
ENST00000484087.6:c.664+1379_664+1380delinsCA ENSP00000419481.2:n.664+1379_664+1380deli...
ENST00000700182.1:c.706+1379_706+1380delinsCA ENSP00000514849.1:n.706+1379_706+1380deli...
ENST00000357654.9:c.2166_2167delinsCA MANE Select ENSP00000350283.3:p.Val722=
ENST00000471181.7:c.2166_2167delinsCA ENSP00000418960.2:p.Val722=
ENST00000352993.7:c.671-2333_671-2332delinsCA ENSP00000312236.5:n.671-2333_671-2332deli...
ENST00000354071.7:c.2166_2167delinsCA ENSP00000326002.7:p.Val722=
ENST00000357654.7:c.2166_2167delinsCA ENSP00000350283.3:p.Val722=
ENST00000461221.5:c.*1949_*1950delinsCA ENSP00000418548.1:n.*1949_*1950delinsCA
ENST00000468300.5:c.787+1379_787+1380delinsCA ENSP00000417148.1:n.787+1379_787+1380deli...
ENST00000471181.6:c.2166_2167delinsCA ENSP00000418960.2:p.Val722=
ENST00000478531.5:c.784+1379_784+1380delinsCA ENSP00000420412.1:n.784+1379_784+1380deli...
ENST00000484087.5:c.409+1379_409+1380delinsCA ENSP00000419481.1:n.409+1379_409+1380deli...
ENST00000487825.5:c.412+1379_412+1380delinsCA ENSP00000418212.1:n.412+1379_412+1380deli...
ENST00000491747.6:c.787+1379_787+1380delinsCA ENSP00000420705.2:n.787+1379_787+1380deli...
ENST00000493795.5:c.2025_2026delinsCA ENSP00000418775.1:p.Val675=
ENST00000493919.5:c.646+1379_646+1380delinsCA ENSP00000418819.1:n.646+1379_646+1380deli...
ENST00000586385.5:c.5-29414_5-29413delinsCA ENSP00000465818.1:n.5-29414_5-29413delins...
ENST00000591534.5:c.-43-18844_-43-18843delinsCA ENSP00000467329.1:n.-43-18844_-43-18843de...
ENST00000591849.5:c.-99+31906_-99+31907delinsCA ENSP00000465347.1:n.-99+31906_-99+31907de...
ENST00000634433.1:c.2043_2044delinsCA ENSP00000489431.1:p.Val681=
NM_007294.3:c.2166_2167delinsCA , LRG_292t1:c.2166_2167delinsCA NP_009225.1:p.Val722=
NM_007297.3:c.2025_2026delinsCA NP_009228.2:p.Val675=
NM_007298.3:c.787+1379_787+1380delinsCA NP_009229.2:n.787+1379_787+1380delinsCA
NM_007299.3:c.787+1379_787+1380delinsCA NP_009230.2:n.787+1379_787+1380delinsCA
NM_007300.3:c.2166_2167delinsCA NP_009231.2:p.Val722=
NR_027676.1:n.2302_2303delinsCA
NM_007294.4:c.2166_2167delinsCA MANE Select NP_009225.1:p.Val722=
NM_007297.4:c.2025_2026delinsCA NP_009228.2:p.Val675=
NM_007299.4:c.787+1379_787+1380delinsCA NP_009230.2:n.787+1379_787+1380delinsCA
NM_007300.4:c.2166_2167delinsCA NP_009231.2:p.Val722=
NR_027676.2:n.2343_2344delinsCA