Canonical Allele Identifier: CA2260784172
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43093632_43093633delinsTG , CM000679.2:g.43093632_43093633delinsTG GRCh38
NC_000017.10:g.41245649_41245650delinsTG , CM000679.1:g.41245649_41245650delinsTG GRCh37
NC_000017.9:g.38499175_38499176delinsTG NCBI36
NG_005905.2:g.124351_124352delinsCA , LRG_292:g.124351_124352delinsCA

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.1962_1963delinsCA
ENST00000461574.2:c.1898_1899delinsCA ENSP00000417241.2:p.Pro633=
ENST00000470026.6:c.1898_1899delinsCA ENSP00000419274.2:p.Pro633=
ENST00000473961.6:c.1772_1773delinsCA ENSP00000420201.2:p.Pro591=
ENST00000476777.6:c.1895_1896delinsCA ENSP00000417554.2:p.Pro632=
ENST00000477152.6:c.1820_1821delinsCA ENSP00000419988.2:p.Pro607=
ENST00000478531.6:c.784+1111_784+1112delinsCA ENSP00000420412.2:n.784+1111_784+1112deli...
ENST00000489037.2:c.1820_1821delinsCA ENSP00000420781.2:p.Pro607=
ENST00000493919.6:c.646+1111_646+1112delinsCA ENSP00000418819.2:n.646+1111_646+1112deli...
ENST00000494123.6:c.1898_1899delinsCA ENSP00000419103.2:p.Pro633=
ENST00000497488.2:c.1010_1011delinsCA ENSP00000418986.2:p.Pro337=
ENST00000618469.2:c.1898_1899delinsCA ENSP00000478114.2:p.Pro633=
ENST00000634433.2:c.1775_1776delinsCA ENSP00000489431.2:p.Pro592=
ENST00000644379.2:c.1898_1899delinsCA ENSP00000496570.2:p.Pro633=
ENST00000644555.2:c.646+1111_646+1112delinsCA ENSP00000494614.2:n.646+1111_646+1112deli...
ENST00000652672.2:c.1757_1758delinsCA ENSP00000498906.2:p.Pro586=
ENST00000484087.6:c.664+1111_664+1112delinsCA ENSP00000419481.2:n.664+1111_664+1112deli...
ENST00000700182.1:c.706+1111_706+1112delinsCA ENSP00000514849.1:n.706+1111_706+1112deli...
ENST00000357654.9:c.1898_1899delinsCA MANE Select ENSP00000350283.3:p.Pro633=
ENST00000471181.7:c.1898_1899delinsCA ENSP00000418960.2:p.Pro633=
ENST00000652672.1:c.1757_1758delinsCA ENSP00000498906.1:p.Pro586=
ENST00000352993.7:c.670+2213_670+2214delinsCA ENSP00000312236.5:n.670+2213_670+2214deli...
ENST00000354071.7:c.1898_1899delinsCA ENSP00000326002.7:p.Pro633=
ENST00000357654.7:c.1898_1899delinsCA ENSP00000350283.3:p.Pro633=
ENST00000412061.3:c.1249_1250delinsCA
ENST00000461221.5:c.*1681_*1682delinsCA ENSP00000418548.1:n.*1681_*1682delinsCA
ENST00000468300.5:c.787+1111_787+1112delinsCA ENSP00000417148.1:n.787+1111_787+1112deli...
ENST00000470026.5:c.1898_1899delinsCA ENSP00000419274.1:p.Pro633=
ENST00000471181.6:c.1898_1899delinsCA ENSP00000418960.2:p.Pro633=
ENST00000477152.5:c.1820_1821delinsCA ENSP00000419988.1:p.Pro607=
ENST00000478531.5:c.784+1111_784+1112delinsCA ENSP00000420412.1:n.784+1111_784+1112deli...
ENST00000484087.5:c.409+1111_409+1112delinsCA ENSP00000419481.1:n.409+1111_409+1112deli...
ENST00000487825.5:c.412+1111_412+1112delinsCA ENSP00000418212.1:n.412+1111_412+1112deli...
ENST00000491747.6:c.787+1111_787+1112delinsCA ENSP00000420705.2:n.787+1111_787+1112deli...
ENST00000493795.5:c.1757_1758delinsCA ENSP00000418775.1:p.Pro586=
ENST00000493919.5:c.646+1111_646+1112delinsCA ENSP00000418819.1:n.646+1111_646+1112deli...
ENST00000586385.5:c.5-29682_5-29681delinsCA ENSP00000465818.1:n.5-29682_5-29681delins...
ENST00000591534.5:c.-43-19112_-43-19111delinsCA ENSP00000467329.1:n.-43-19112_-43-19111de...
ENST00000591849.5:c.-99+31638_-99+31639delinsCA ENSP00000465347.1:n.-99+31638_-99+31639de...
ENST00000634433.1:c.1775_1776delinsCA ENSP00000489431.1:p.Pro592=
NM_007294.3:c.1898_1899delinsCA , LRG_292t1:c.1898_1899delinsCA NP_009225.1:p.Pro633=
NM_007297.3:c.1757_1758delinsCA NP_009228.2:p.Pro586=
NM_007298.3:c.787+1111_787+1112delinsCA NP_009229.2:n.787+1111_787+1112delinsCA
NM_007299.3:c.787+1111_787+1112delinsCA NP_009230.2:n.787+1111_787+1112delinsCA
NM_007300.3:c.1898_1899delinsCA NP_009231.2:p.Pro633=
NR_027676.1:n.2034_2035delinsCA
NM_007294.4:c.1898_1899delinsCA MANE Select NP_009225.1:p.Pro633=
NM_007297.4:c.1757_1758delinsCA NP_009228.2:p.Pro586=
NM_007299.4:c.787+1111_787+1112delinsCA NP_009230.2:n.787+1111_787+1112delinsCA
NM_007300.4:c.1898_1899delinsCA NP_009231.2:p.Pro633=
NR_027676.2:n.2075_2076delinsCA