Canonical Allele Identifier: CA2830556184
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43093821_43093822insCA , CM000679.2:g.43093821_43093822insCA GRCh38
NC_000017.10:g.41245838_41245839insCA , CM000679.1:g.41245838_41245839insCA GRCh37
NC_000017.9:g.38499364_38499365insCA NCBI36
NG_005905.2:g.124162_124163insTG , LRG_292:g.124162_124163insTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.1773_1774insTG
ENST00000461574.2:c.1709_1710insTG ENSP00000417241.2:p.Ile571GlufsTer2
ENST00000470026.6:c.1709_1710insTG ENSP00000419274.2:p.Ile571GlufsTer2
ENST00000473961.6:c.1583_1584insTG ENSP00000420201.2:p.Ile529GlufsTer2
ENST00000476777.6:c.1706_1707insTG ENSP00000417554.2:p.Ile570GlufsTer2
ENST00000477152.6:c.1631_1632insTG ENSP00000419988.2:p.Ile545GlufsTer2
ENST00000478531.6:c.784+922_784+923insTG ENSP00000420412.2:n.784+922_784+923insTG
ENST00000489037.2:c.1631_1632insTG ENSP00000420781.2:p.Ile545GlufsTer2
ENST00000493919.6:c.646+922_646+923insTG ENSP00000418819.2:n.646+922_646+923insTG
ENST00000494123.6:c.1709_1710insTG ENSP00000419103.2:p.Ile571GlufsTer2
ENST00000497488.2:c.821_822insTG ENSP00000418986.2:p.Ile275GlufsTer2
ENST00000618469.2:c.1709_1710insTG ENSP00000478114.2:p.Ile571GlufsTer2
ENST00000634433.2:c.1586_1587insTG ENSP00000489431.2:p.Ile530GlufsTer2
ENST00000644379.2:c.1709_1710insTG ENSP00000496570.2:p.Ile571GlufsTer2
ENST00000644555.2:c.646+922_646+923insTG ENSP00000494614.2:n.646+922_646+923insTG
ENST00000652672.2:c.1568_1569insTG ENSP00000498906.2:p.Ile524GlufsTer2
ENST00000484087.6:c.664+922_664+923insTG ENSP00000419481.2:n.664+922_664+923insTG
ENST00000700182.1:c.706+922_706+923insTG ENSP00000514849.1:n.706+922_706+923insTG
ENST00000357654.9:c.1709_1710insTG MANE Select ENSP00000350283.3:p.Ile571GlufsTer2
ENST00000471181.7:c.1709_1710insTG ENSP00000418960.2:p.Ile571GlufsTer2
ENST00000652672.1:c.1568_1569insTG ENSP00000498906.1:p.Ile524GlufsTer2
ENST00000352993.7:c.670+2024_670+2025insTG ENSP00000312236.5:n.670+2024_670+2025insTG
ENST00000354071.7:c.1709_1710insTG ENSP00000326002.7:p.Ile571GlufsTer2
ENST00000357654.7:c.1709_1710insTG ENSP00000350283.3:p.Ile571GlufsTer2
ENST00000412061.3:c.1060_1061insTG
ENST00000461221.5:c.*1492_*1493insTG ENSP00000418548.1:n.*1492_*1493insTG
ENST00000468300.5:c.787+922_787+923insTG ENSP00000417148.1:n.787+922_787+923insTG
ENST00000470026.5:c.1709_1710insTG ENSP00000419274.1:p.Ile571GlufsTer2
ENST00000471181.6:c.1709_1710insTG ENSP00000418960.2:p.Ile571GlufsTer2
ENST00000477152.5:c.1631_1632insTG ENSP00000419988.1:p.Ile545GlufsTer2
ENST00000478531.5:c.784+922_784+923insTG ENSP00000420412.1:n.784+922_784+923insTG
ENST00000484087.5:c.409+922_409+923insTG ENSP00000419481.1:n.409+922_409+923insTG
ENST00000487825.5:c.412+922_412+923insTG ENSP00000418212.1:n.412+922_412+923insTG
ENST00000491747.6:c.787+922_787+923insTG ENSP00000420705.2:n.787+922_787+923insTG
ENST00000493795.5:c.1568_1569insTG ENSP00000418775.1:p.Ile524GlufsTer2
ENST00000493919.5:c.646+922_646+923insTG ENSP00000418819.1:n.646+922_646+923insTG
ENST00000586385.5:c.5-29871_5-29870insTG ENSP00000465818.1:n.5-29871_5-29870insTG
ENST00000591534.5:c.-43-19301_-43-19300insTG ENSP00000467329.1:n.-43-19301_-43-19300insTG
ENST00000591849.5:c.-99+31449_-99+31450insTG ENSP00000465347.1:n.-99+31449_-99+31450insTG
ENST00000634433.1:c.1586_1587insTG ENSP00000489431.1:p.Ile530GlufsTer2
NM_007294.3:c.1709_1710insTG , LRG_292t1:c.1709_1710insTG NP_009225.1:p.Ile571GlufsTer2
NM_007297.3:c.1568_1569insTG NP_009228.2:p.Ile524GlufsTer2
NM_007298.3:c.787+922_787+923insTG NP_009229.2:n.787+922_787+923insTG
NM_007299.3:c.787+922_787+923insTG NP_009230.2:n.787+922_787+923insTG
NM_007300.3:c.1709_1710insTG NP_009231.2:p.Ile571GlufsTer2
NR_027676.1:n.1845_1846insTG
NM_007294.4:c.1709_1710insTG MANE Select NP_009225.1:p.Ile571GlufsTer2
NM_007297.4:c.1568_1569insTG NP_009228.2:p.Ile524GlufsTer2
NM_007299.4:c.787+922_787+923insTG NP_009230.2:n.787+922_787+923insTG
NM_007300.4:c.1709_1710insTG NP_009231.2:p.Ile571GlufsTer2
NR_027676.2:n.1886_1887insTG