Canonical Allele Identifier: CA2573334530

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094519_43094520insG , CM000679.2:g.43094519_43094520insG	GRCh38
NC_000017.10:g.41246536_41246537insG , CM000679.1:g.41246536_41246537insG	GRCh37
NC_000017.9:g.38500062_38500063insG	NCBI36
NG_005905.2:g.123464_123465insC , LRG_292:g.123464_123465insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1075_1076insC
ENST00000461574.2:c.1011_1012insC	ENSP00000417241.2:p.Lys338GlnfsTer8
ENST00000470026.6:c.1011_1012insC	ENSP00000419274.2:p.Lys338GlnfsTer8
ENST00000473961.6:c.885_886insC	ENSP00000420201.2:p.Lys296GlnfsTer8
ENST00000476777.6:c.1008_1009insC	ENSP00000417554.2:p.Lys337GlnfsTer8
ENST00000477152.6:c.933_934insC	ENSP00000419988.2:p.Lys312GlnfsTer8
ENST00000478531.6:c.784+224_784+225insC	ENSP00000420412.2:n.784+224_784+225insC
ENST00000489037.2:c.933_934insC	ENSP00000420781.2:p.Lys312GlnfsTer8
ENST00000493919.6:c.646+224_646+225insC	ENSP00000418819.2:n.646+224_646+225insC
ENST00000494123.6:c.1011_1012insC	ENSP00000419103.2:p.Lys338GlnfsTer8
ENST00000497488.2:c.123_124insC	ENSP00000418986.2:p.Lys42GlnfsTer8
ENST00000618469.2:c.1011_1012insC	ENSP00000478114.2:p.Lys338GlnfsTer8
ENST00000634433.2:c.888_889insC	ENSP00000489431.2:p.Lys297GlnfsTer8
ENST00000644379.2:c.1011_1012insC	ENSP00000496570.2:p.Lys338GlnfsTer8
ENST00000644555.2:c.646+224_646+225insC	ENSP00000494614.2:n.646+224_646+225insC
ENST00000652672.2:c.870_871insC	ENSP00000498906.2:p.Lys291GlnfsTer8
ENST00000484087.6:c.664+224_664+225insC	ENSP00000419481.2:n.664+224_664+225insC
ENST00000700182.1:c.706+224_706+225insC	ENSP00000514849.1:n.706+224_706+225insC
ENST00000700183.1:c.*1019_*1020insC	ENSP00000514850.1:n.*1019_*1020insC
ENST00000357654.9:c.1011_1012insC MANE Select	ENSP00000350283.3:p.Lys338GlnfsTer8
ENST00000471181.7:c.1011_1012insC	ENSP00000418960.2:p.Lys338GlnfsTer8
ENST00000642945.1:c.*885_*886insC	ENSP00000495897.1:n.*885_*886insC
ENST00000652672.1:c.870_871insC	ENSP00000498906.1:p.Lys291GlnfsTer8
ENST00000352993.7:c.670+1326_670+1327insC	ENSP00000312236.5:n.670+1326_670+1327insC
ENST00000354071.7:c.1011_1012insC	ENSP00000326002.7:p.Lys338GlnfsTer8
ENST00000357654.7:c.1011_1012insC	ENSP00000350283.3:p.Lys338GlnfsTer8
ENST00000412061.3:c.362_363insC
ENST00000461221.5:c.*794_*795insC	ENSP00000418548.1:n.*794_*795insC
ENST00000468300.5:c.787+224_787+225insC	ENSP00000417148.1:n.787+224_787+225insC
ENST00000470026.5:c.1011_1012insC	ENSP00000419274.1:p.Lys338GlnfsTer8
ENST00000471181.6:c.1011_1012insC	ENSP00000418960.2:p.Lys338GlnfsTer8
ENST00000473961.5:c.608_609insC
ENST00000477152.5:c.933_934insC	ENSP00000419988.1:p.Lys312GlnfsTer8
ENST00000478531.5:c.784+224_784+225insC	ENSP00000420412.1:n.784+224_784+225insC
ENST00000484087.5:c.409+224_409+225insC	ENSP00000419481.1:n.409+224_409+225insC
ENST00000487825.5:c.412+224_412+225insC	ENSP00000418212.1:n.412+224_412+225insC
ENST00000491747.6:c.787+224_787+225insC	ENSP00000420705.2:n.787+224_787+225insC
ENST00000492859.5:c.*947_*948insC	ENSP00000420253.1:n.*947_*948insC
ENST00000493795.5:c.870_871insC	ENSP00000418775.1:p.Lys291GlnfsTer8
ENST00000493919.5:c.646+224_646+225insC	ENSP00000418819.1:n.646+224_646+225insC
ENST00000494123.5:c.1011_1012insC	ENSP00000419103.1:p.Lys338GlnfsTer8
ENST00000497488.1:c.123_124insC	ENSP00000418986.1:p.Lys42GlnfsTer8
ENST00000586385.5:c.5-30569_5-30568insC	ENSP00000465818.1:n.5-30569_5-30568insC
ENST00000591534.5:c.-43-19999_-43-19998insC	ENSP00000467329.1:n.-43-19999_-43-19998insC
ENST00000591849.5:c.-99+30751_-99+30752insC	ENSP00000465347.1:n.-99+30751_-99+30752insC
ENST00000634433.1:c.888_889insC	ENSP00000489431.1:p.Lys297GlnfsTer8
NM_007294.3:c.1011_1012insC , LRG_292t1:c.1011_1012insC	NP_009225.1:p.Lys338GlnfsTer8
NM_007297.3:c.870_871insC	NP_009228.2:p.Lys291GlnfsTer8
NM_007298.3:c.787+224_787+225insC	NP_009229.2:n.787+224_787+225insC
NM_007299.3:c.787+224_787+225insC	NP_009230.2:n.787+224_787+225insC
NM_007300.3:c.1011_1012insC	NP_009231.2:p.Lys338GlnfsTer8
NR_027676.1:n.1147_1148insC
NM_007294.4:c.1011_1012insC MANE Select	NP_009225.1:p.Lys338GlnfsTer8
NM_007297.4:c.870_871insC	NP_009228.2:p.Lys291GlnfsTer8
NM_007299.4:c.787+224_787+225insC	NP_009230.2:n.787+224_787+225insC
NM_007300.4:c.1011_1012insC	NP_009231.2:p.Lys338GlnfsTer8
NR_027676.2:n.1188_1189insC