Canonical Allele Identifier: CA2580612633

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2565350
• ClinVar RCV Id: RCV003301832 ; RCV003530296

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091478_43091479insT , CM000679.2:g.43091478_43091479insT	GRCh38
NC_000017.10:g.41243495_41243496insT , CM000679.1:g.41243495_41243496insT	GRCh37
NC_000017.9:g.38497021_38497022insT	NCBI36
NG_005905.2:g.126505_126506insA , LRG_292:g.126505_126506insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.4116_4117insA
ENST00000461574.2:c.4052_4053insA	ENSP00000417241.2:p.Glu1352GlyfsTer4
ENST00000470026.6:c.4052_4053insA	ENSP00000419274.2:p.Glu1352GlyfsTer4
ENST00000473961.6:c.3926_3927insA	ENSP00000420201.2:p.Glu1310GlyfsTer4
ENST00000476777.6:c.4049_4050insA	ENSP00000417554.2:p.Glu1351GlyfsTer4
ENST00000477152.6:c.3974_3975insA	ENSP00000419988.2:p.Glu1326GlyfsTer4
ENST00000478531.6:c.785-447_785-446insA	ENSP00000420412.2:n.785-447_785-446insA
ENST00000489037.2:c.3974_3975insA	ENSP00000420781.2:p.Glu1326GlyfsTer4
ENST00000493919.6:c.647-447_647-446insA	ENSP00000418819.2:n.647-447_647-446insA
ENST00000494123.6:c.4052_4053insA	ENSP00000419103.2:p.Glu1352GlyfsTer4
ENST00000497488.2:c.3164_3165insA	ENSP00000418986.2:p.Glu1056GlyfsTer4
ENST00000618469.2:c.4052_4053insA	ENSP00000478114.2:p.Glu1352GlyfsTer4
ENST00000634433.2:c.3929_3930insA	ENSP00000489431.2:p.Glu1311GlyfsTer4
ENST00000644379.2:c.4052_4053insA	ENSP00000496570.2:p.Glu1352GlyfsTer4
ENST00000644555.2:c.647-447_647-446insA	ENSP00000494614.2:n.647-447_647-446insA
ENST00000652672.2:c.3911_3912insA	ENSP00000498906.2:p.Glu1305GlyfsTer4
ENST00000484087.6:c.665-447_665-446insA	ENSP00000419481.2:n.665-447_665-446insA
ENST00000700182.1:c.707-447_707-446insA	ENSP00000514849.1:n.707-447_707-446insA
ENST00000357654.9:c.4052_4053insA MANE Select	ENSP00000350283.3:p.Glu1352GlyfsTer4
ENST00000471181.7:c.4052_4053insA	ENSP00000418960.2:p.Glu1352GlyfsTer4
ENST00000644379.1:c.373_374insA
ENST00000352993.7:c.671-447_671-446insA	ENSP00000312236.5:n.671-447_671-446insA
ENST00000354071.7:c.4052_4053insA	ENSP00000326002.7:p.Glu1352GlyfsTer4
ENST00000357654.7:c.4052_4053insA	ENSP00000350283.3:p.Glu1352GlyfsTer4
ENST00000461221.5:c.*3835_*3836insA	ENSP00000418548.1:n.*3835_*3836insA
ENST00000461574.1:c.346_347insA
ENST00000468300.5:c.788-447_788-446insA	ENSP00000417148.1:n.788-447_788-446insA
ENST00000471181.6:c.4052_4053insA	ENSP00000418960.2:p.Glu1352GlyfsTer4
ENST00000478531.5:c.785-447_785-446insA	ENSP00000420412.1:n.785-447_785-446insA
ENST00000484087.5:c.410-447_410-446insA	ENSP00000419481.1:n.410-447_410-446insA
ENST00000487825.5:c.413-447_413-446insA	ENSP00000418212.1:n.413-447_413-446insA
ENST00000491747.6:c.788-447_788-446insA	ENSP00000420705.2:n.788-447_788-446insA
ENST00000493795.5:c.3911_3912insA	ENSP00000418775.1:p.Glu1305GlyfsTer4
ENST00000493919.5:c.647-447_647-446insA	ENSP00000418819.1:n.647-447_647-446insA
ENST00000586385.5:c.5-27528_5-27527insA	ENSP00000465818.1:n.5-27528_5-27527insA
ENST00000591534.5:c.-43-16958_-43-16957insA	ENSP00000467329.1:n.-43-16958_-43-16957insA
ENST00000591849.5:c.-99+33792_-99+33793insA	ENSP00000465347.1:n.-99+33792_-99+33793insA
NM_007294.3:c.4052_4053insA , LRG_292t1:c.4052_4053insA	NP_009225.1:p.Glu1352GlyfsTer4
NM_007297.3:c.3911_3912insA	NP_009228.2:p.Glu1305GlyfsTer4
NM_007298.3:c.788-447_788-446insA	NP_009229.2:n.788-447_788-446insA
NM_007299.3:c.788-447_788-446insA	NP_009230.2:n.788-447_788-446insA
NM_007300.3:c.4052_4053insA	NP_009231.2:p.Glu1352GlyfsTer4
NR_027676.1:n.4188_4189insA
NM_007294.4:c.4052_4053insA MANE Select	NP_009225.1:p.Glu1352GlyfsTer4
NM_007297.4:c.3911_3912insA	NP_009228.2:p.Glu1305GlyfsTer4
NM_007299.4:c.788-447_788-446insA	NP_009230.2:n.788-447_788-446insA
NM_007300.4:c.4052_4053insA	NP_009231.2:p.Glu1352GlyfsTer4
NR_027676.2:n.4229_4230insA