Canonical Allele Identifier: CA1139664791

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 933210
• ClinVar RCV Id: RCV001201305
• dbSNP Id: rs2053902770

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093861_43093865del , CM000679.2:g.43093861_43093865del	GRCh38
NC_000017.10:g.41245878_41245882del , CM000679.1:g.41245878_41245882del	GRCh37
NC_000017.9:g.38499404_38499408del	NCBI36
NG_005905.2:g.124123_124127del , LRG_292:g.124123_124127del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1734_1738del
ENST00000461574.2:c.1670_1674del	ENSP00000417241.2:p.Thr557ArgfsTer2
ENST00000470026.6:c.1670_1674del	ENSP00000419274.2:p.Thr557ArgfsTer2
ENST00000473961.6:c.1544_1548del	ENSP00000420201.2:p.Thr515ArgfsTer2
ENST00000476777.6:c.1667_1671del	ENSP00000417554.2:p.Thr556ArgfsTer2
ENST00000477152.6:c.1592_1596del	ENSP00000419988.2:p.Thr531ArgfsTer2
ENST00000478531.6:c.784+883_784+887del	ENSP00000420412.2:n.784+883_784+887del
ENST00000489037.2:c.1592_1596del	ENSP00000420781.2:p.Thr531ArgfsTer2
ENST00000493919.6:c.646+883_646+887del	ENSP00000418819.2:n.646+883_646+887del
ENST00000494123.6:c.1670_1674del	ENSP00000419103.2:p.Thr557ArgfsTer2
ENST00000497488.2:c.782_786del	ENSP00000418986.2:p.Thr261ArgfsTer2
ENST00000618469.2:c.1670_1674del	ENSP00000478114.2:p.Thr557ArgfsTer2
ENST00000634433.2:c.1547_1551del	ENSP00000489431.2:p.Thr516ArgfsTer2
ENST00000644379.2:c.1670_1674del	ENSP00000496570.2:p.Thr557ArgfsTer2
ENST00000644555.2:c.646+883_646+887del	ENSP00000494614.2:n.646+883_646+887del
ENST00000652672.2:c.1529_1533del	ENSP00000498906.2:p.Thr510ArgfsTer2
ENST00000484087.6:c.664+883_664+887del	ENSP00000419481.2:n.664+883_664+887del
ENST00000700182.1:c.706+883_706+887del	ENSP00000514849.1:n.706+883_706+887del
ENST00000357654.9:c.1670_1674del MANE Select	ENSP00000350283.3:p.Thr557ArgfsTer2
ENST00000471181.7:c.1670_1674del	ENSP00000418960.2:p.Thr557ArgfsTer2
ENST00000652672.1:c.1529_1533del	ENSP00000498906.1:p.Thr510ArgfsTer2
ENST00000352993.7:c.670+1985_670+1989del	ENSP00000312236.5:n.670+1985_670+1989del
ENST00000354071.7:c.1670_1674del	ENSP00000326002.7:p.Thr557ArgfsTer2
ENST00000357654.7:c.1670_1674del	ENSP00000350283.3:p.Thr557ArgfsTer2
ENST00000412061.3:c.1021_1025del
ENST00000461221.5:c.*1453_*1457del	ENSP00000418548.1:n.*1453_*1457del
ENST00000468300.5:c.787+883_787+887del	ENSP00000417148.1:n.787+883_787+887del
ENST00000470026.5:c.1670_1674del	ENSP00000419274.1:p.Thr557ArgfsTer2
ENST00000471181.6:c.1670_1674del	ENSP00000418960.2:p.Thr557ArgfsTer2
ENST00000477152.5:c.1592_1596del	ENSP00000419988.1:p.Thr531ArgfsTer2
ENST00000478531.5:c.784+883_784+887del	ENSP00000420412.1:n.784+883_784+887del
ENST00000484087.5:c.409+883_409+887del	ENSP00000419481.1:n.409+883_409+887del
ENST00000487825.5:c.412+883_412+887del	ENSP00000418212.1:n.412+883_412+887del
ENST00000491747.6:c.787+883_787+887del	ENSP00000420705.2:n.787+883_787+887del
ENST00000493795.5:c.1529_1533del	ENSP00000418775.1:p.Thr510ArgfsTer2
ENST00000493919.5:c.646+883_646+887del	ENSP00000418819.1:n.646+883_646+887del
ENST00000586385.5:c.5-29910_5-29906del	ENSP00000465818.1:n.5-29910_5-29906del
ENST00000591534.5:c.-43-19340_-43-19336del	ENSP00000467329.1:n.-43-19340_-43-19336del
ENST00000591849.5:c.-99+31410_-99+31414del	ENSP00000465347.1:n.-99+31410_-99+31414del
ENST00000634433.1:c.1547_1551del	ENSP00000489431.1:p.Thr516ArgfsTer2
NM_007294.3:c.1670_1674del , LRG_292t1:c.1670_1674del	NP_009225.1:p.Thr557ArgfsTer2
NM_007297.3:c.1529_1533del	NP_009228.2:p.Thr510ArgfsTer2
NM_007298.3:c.787+883_787+887del	NP_009229.2:n.787+883_787+887del
NM_007299.3:c.787+883_787+887del	NP_009230.2:n.787+883_787+887del
NM_007300.3:c.1670_1674del	NP_009231.2:p.Thr557ArgfsTer2
NR_027676.1:n.1806_1810del
NM_007294.4:c.1670_1674del MANE Select	NP_009225.1:p.Thr557ArgfsTer2
NM_007297.4:c.1529_1533del	NP_009228.2:p.Thr510ArgfsTer2
NM_007299.4:c.787+883_787+887del	NP_009230.2:n.787+883_787+887del
NM_007300.4:c.1670_1674del	NP_009231.2:p.Thr557ArgfsTer2
NR_027676.2:n.1847_1851del