Canonical Allele Identifier: CA000964

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 125500
• ClinVar RCV Id: RCV000111617 ; RCV000496531 ; RCV001798287
• dbSNP Id: rs80357778
• MyVariant Identifiers: chr17:g.41246107_41246108insT (hg19) ; chr17:g.43094090_43094091insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094090_43094091insT , CM000679.2:g.43094090_43094091insT	GRCh38
NC_000017.10:g.41246107_41246108insT , CM000679.1:g.41246107_41246108insT	GRCh37
NC_000017.9:g.38499633_38499634insT	NCBI36
NG_005905.2:g.123893_123894insA , LRG_292:g.123893_123894insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1504_1505insA
ENST00000461574.2:c.1440_1441insA	ENSP00000417241.2:p.Leu481ThrfsTer9
ENST00000470026.6:c.1440_1441insA	ENSP00000419274.2:p.Leu481ThrfsTer9
ENST00000473961.6:c.1314_1315insA	ENSP00000420201.2:p.Leu439ThrfsTer9
ENST00000476777.6:c.1437_1438insA	ENSP00000417554.2:p.Leu480ThrfsTer9
ENST00000477152.6:c.1362_1363insA	ENSP00000419988.2:p.Leu455ThrfsTer9
ENST00000478531.6:c.784+653_784+654insA	ENSP00000420412.2:n.784+653_784+654insA
ENST00000489037.2:c.1362_1363insA	ENSP00000420781.2:p.Leu455ThrfsTer9
ENST00000493919.6:c.646+653_646+654insA	ENSP00000418819.2:n.646+653_646+654insA
ENST00000494123.6:c.1440_1441insA	ENSP00000419103.2:p.Leu481ThrfsTer9
ENST00000497488.2:c.552_553insA	ENSP00000418986.2:p.Leu185ThrfsTer9
ENST00000618469.2:c.1440_1441insA	ENSP00000478114.2:p.Leu481ThrfsTer9
ENST00000634433.2:c.1317_1318insA	ENSP00000489431.2:p.Leu440ThrfsTer9
ENST00000644379.2:c.1440_1441insA	ENSP00000496570.2:p.Leu481ThrfsTer9
ENST00000644555.2:c.646+653_646+654insA	ENSP00000494614.2:n.646+653_646+654insA
ENST00000652672.2:c.1299_1300insA	ENSP00000498906.2:p.Leu434ThrfsTer9
ENST00000484087.6:c.664+653_664+654insA	ENSP00000419481.2:n.664+653_664+654insA
ENST00000700182.1:c.706+653_706+654insA	ENSP00000514849.1:n.706+653_706+654insA
ENST00000700183.1:c.*1448_*1449insA	ENSP00000514850.1:n.*1448_*1449insA
ENST00000357654.9:c.1440_1441insA MANE Select	ENSP00000350283.3:p.Leu481ThrfsTer9
ENST00000471181.7:c.1440_1441insA	ENSP00000418960.2:p.Leu481ThrfsTer9
ENST00000652672.1:c.1299_1300insA	ENSP00000498906.1:p.Leu434ThrfsTer9
ENST00000352993.7:c.670+1755_670+1756insA	ENSP00000312236.5:n.670+1755_670+1756insA
ENST00000354071.7:c.1440_1441insA	ENSP00000326002.7:p.Leu481ThrfsTer9
ENST00000357654.7:c.1440_1441insA	ENSP00000350283.3:p.Leu481ThrfsTer9
ENST00000412061.3:c.791_792insA
ENST00000461221.5:c.*1223_*1224insA	ENSP00000418548.1:n.*1223_*1224insA
ENST00000468300.5:c.787+653_787+654insA	ENSP00000417148.1:n.787+653_787+654insA
ENST00000470026.5:c.1440_1441insA	ENSP00000419274.1:p.Leu481ThrfsTer9
ENST00000471181.6:c.1440_1441insA	ENSP00000418960.2:p.Leu481ThrfsTer9
ENST00000477152.5:c.1362_1363insA	ENSP00000419988.1:p.Leu455ThrfsTer9
ENST00000478531.5:c.784+653_784+654insA	ENSP00000420412.1:n.784+653_784+654insA
ENST00000484087.5:c.409+653_409+654insA	ENSP00000419481.1:n.409+653_409+654insA
ENST00000487825.5:c.412+653_412+654insA	ENSP00000418212.1:n.412+653_412+654insA
ENST00000491747.6:c.787+653_787+654insA	ENSP00000420705.2:n.787+653_787+654insA
ENST00000493795.5:c.1299_1300insA	ENSP00000418775.1:p.Leu434ThrfsTer9
ENST00000493919.5:c.646+653_646+654insA	ENSP00000418819.1:n.646+653_646+654insA
ENST00000586385.5:c.5-30140_5-30139insA	ENSP00000465818.1:n.5-30140_5-30139insA
ENST00000591534.5:c.-43-19570_-43-19569insA	ENSP00000467329.1:n.-43-19570_-43-19569insA
ENST00000591849.5:c.-99+31180_-99+31181insA	ENSP00000465347.1:n.-99+31180_-99+31181insA
ENST00000634433.1:c.1317_1318insA	ENSP00000489431.1:p.Leu440ThrfsTer9
NM_007294.3:c.1440_1441insA , LRG_292t1:c.1440_1441insA	NP_009225.1:p.Leu481ThrfsTer9
NM_007297.3:c.1299_1300insA	NP_009228.2:p.Leu434ThrfsTer9
NM_007298.3:c.787+653_787+654insA	NP_009229.2:n.787+653_787+654insA
NM_007299.3:c.787+653_787+654insA	NP_009230.2:n.787+653_787+654insA
NM_007300.3:c.1440_1441insA	NP_009231.2:p.Leu481ThrfsTer9
NR_027676.1:n.1576_1577insA
NM_007294.4:c.1440_1441insA MANE Select	NP_009225.1:p.Leu481ThrfsTer9
NM_007297.4:c.1299_1300insA	NP_009228.2:p.Leu434ThrfsTer9
NM_007299.4:c.787+653_787+654insA	NP_009230.2:n.787+653_787+654insA
NM_007300.4:c.1440_1441insA	NP_009231.2:p.Leu481ThrfsTer9
NR_027676.2:n.1617_1618insA