Canonical Allele Identifier: CA2850447047

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43070928_43071238del , CM000679.2:g.43070928_43071238del	GRCh38
NC_000017.10:g.41222945_41223255del , CM000679.1:g.41222945_41223255del	GRCh37
NC_000017.9:g.38476471_38476781del	NCBI36
NG_005905.2:g.146746_147056del , LRG_292:g.146746_147056del

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.4676_4986del MANE Select	NP_009225.1:p.Glu1559AspfsTer16
ENST00000357654.9:c.4676_4986del MANE Select	ENSP00000350283.3:p.Glu1559AspfsTer16
NM_007294.3:c.4676_4986del , LRG_292t1:c.4676_4986del	NP_009225.1:p.Glu1559AspfsTer16
NM_007297.3:c.4535_4845del	NP_009228.2:p.Glu1512AspfsTer16
NM_007297.4:c.4535_4845del	NP_009228.2:p.Glu1512AspfsTer16
NM_007298.3:c.1364_1674del	NP_009229.2:p.Glu455AspfsTer16
NM_007299.3:c.1364_1674del	NP_009230.2:p.Glu455AspfsTer16
NM_007299.4:c.1364_1674del	NP_009230.2:p.Glu455AspfsTer16
NM_007300.3:c.4739_5049del	NP_009231.2:p.Glu1580AspfsTer16
NM_007300.4:c.4739_5049del	NP_009231.2:p.Glu1580AspfsTer16
NR_027676.1:n.4812_5122del
NR_027676.2:n.4853_5163del
ENST00000352993.7:c.1250_1560del	ENSP00000312236.5:p.Glu417AspfsTer16
ENST00000357654.7:c.4676_4986del	ENSP00000350283.3:p.Glu1559AspfsTer16
ENST00000461221.5:c.*4459_*4769del	ENSP00000418548.1:n.*4459_*4769del
ENST00000461574.2:c.4673_4983del	ENSP00000417241.2:p.Glu1558AspfsTer16
ENST00000468300.5:c.1364_1674del	ENSP00000417148.1:p.Glu455AspfsTer16
ENST00000470026.6:c.4676_4986del	ENSP00000419274.2:p.Glu1559AspfsTer16
ENST00000471181.6:c.4739_5049del	ENSP00000418960.2:p.Glu1580AspfsTer16
ENST00000471181.7:c.4739_5049del	ENSP00000418960.2:p.Glu1580AspfsTer16
ENST00000473961.6:c.4550_4860del	ENSP00000420201.2:p.Glu1517AspfsTer16
ENST00000476777.6:c.4670_4980del	ENSP00000417554.2:p.Glu1557AspfsTer16
ENST00000477152.6:c.4598_4908del	ENSP00000419988.2:p.Glu1533AspfsTer16
ENST00000478531.5:c.1364_1674del	ENSP00000420412.1:p.Glu455AspfsTer16
ENST00000478531.6:c.1364_1674del	ENSP00000420412.2:p.Glu455AspfsTer16
ENST00000484087.5:c.989_1299del	ENSP00000419481.1:p.Glu330AspfsTer16
ENST00000484087.6:c.1238_1548del	ENSP00000419481.2:p.Glu413AspfsTer16
ENST00000489037.2:c.4598_4908del	ENSP00000420781.2:p.Glu1533AspfsTer16
ENST00000491747.6:c.1364_1674del	ENSP00000420705.2:p.Glu455AspfsTer16
ENST00000493795.5:c.4535_4845del	ENSP00000418775.1:p.Glu1512AspfsTer16
ENST00000493919.5:c.1226_1536del	ENSP00000418819.1:p.Glu409AspfsTer16
ENST00000493919.6:c.1226_1536del	ENSP00000418819.2:p.Glu409AspfsTer16
ENST00000494123.6:c.4676_4986del	ENSP00000419103.2:p.Glu1559AspfsTer16
ENST00000497488.2:c.3788_4098del	ENSP00000418986.2:p.Glu1263AspfsTer16
ENST00000586385.5:c.5-7287_5-6977del	ENSP00000465818.1:n.5-7287_5-6977del
ENST00000591534.5:c.149_459del	ENSP00000467329.1:p.Glu50AspfsTer16
ENST00000591849.5:c.-98-21048_-98-20738del	ENSP00000465347.1:n.-98-21048_-98-20738del
ENST00000618469.2:c.4676_4986del	ENSP00000478114.2:p.Glu1559AspfsTer16
ENST00000634433.2:c.4553_4863del	ENSP00000489431.2:p.Glu1518AspfsTer16
ENST00000644379.1:c.1063_1373del
ENST00000644379.2:c.4742_5052del	ENSP00000496570.2:p.Glu1581AspfsTer16
ENST00000644555.2:c.1226_1536del	ENSP00000494614.2:p.Glu409AspfsTer16
ENST00000652672.2:c.4535_4845del	ENSP00000498906.2:p.Glu1512AspfsTer16
ENST00000700182.1:c.1283_1593del	ENSP00000514849.1:p.Glu428GlyfsTer12