Canonical Allele Identifier: CA001505

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 91580
• ClinVar RCV Id: RCV000077097
• dbSNP Id: rs398122654
• MyVariant Identifiers: chr17:g.41245301_41245302insTC (hg19) ; chr17:g.43093284_43093285insTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093286_43093287dup , CM000679.2:g.43093286_43093287dup	GRCh38
NC_000017.10:g.41245303_41245304dup , CM000679.1:g.41245303_41245304dup	GRCh37
NC_000017.9:g.38498829_38498830dup	NCBI36
NG_005905.2:g.124698_124699dup , LRG_292:g.124698_124699dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2309_2310dup
ENST00000461574.2:c.2245_2246dup	ENSP00000417241.2:p.Asp749GlufsTer5
ENST00000470026.6:c.2245_2246dup	ENSP00000419274.2:p.Asp749GlufsTer5
ENST00000473961.6:c.2119_2120dup	ENSP00000420201.2:p.Asp707GlufsTer5
ENST00000476777.6:c.2242_2243dup	ENSP00000417554.2:p.Asp748GlufsTer5
ENST00000477152.6:c.2167_2168dup	ENSP00000419988.2:p.Asp723GlufsTer5
ENST00000478531.6:c.784+1458_784+1459dup	ENSP00000420412.2:n.784+1458_784+1459dup
ENST00000489037.2:c.2167_2168dup	ENSP00000420781.2:p.Asp723GlufsTer5
ENST00000493919.6:c.646+1458_646+1459dup	ENSP00000418819.2:n.646+1458_646+1459dup
ENST00000494123.6:c.2245_2246dup	ENSP00000419103.2:p.Asp749GlufsTer5
ENST00000497488.2:c.1357_1358dup	ENSP00000418986.2:p.Asp453GlufsTer5
ENST00000618469.2:c.2245_2246dup	ENSP00000478114.2:p.Asp749GlufsTer5
ENST00000634433.2:c.2122_2123dup	ENSP00000489431.2:p.Asp708GlufsTer5
ENST00000644379.2:c.2245_2246dup	ENSP00000496570.2:p.Asp749GlufsTer5
ENST00000644555.2:c.646+1458_646+1459dup	ENSP00000494614.2:n.646+1458_646+1459dup
ENST00000652672.2:c.2104_2105dup	ENSP00000498906.2:p.Asp702GlufsTer5
ENST00000484087.6:c.664+1458_664+1459dup	ENSP00000419481.2:n.664+1458_664+1459dup
ENST00000700182.1:c.706+1458_706+1459dup	ENSP00000514849.1:n.706+1458_706+1459dup
ENST00000357654.9:c.2245_2246dup MANE Select	ENSP00000350283.3:p.Asp749GlufsTer5
ENST00000471181.7:c.2245_2246dup	ENSP00000418960.2:p.Asp749GlufsTer5
ENST00000352993.7:c.671-2254_671-2253dup	ENSP00000312236.5:n.671-2254_671-2253dup
ENST00000354071.7:c.2245_2246dup	ENSP00000326002.7:p.Asp749GlufsTer5
ENST00000357654.7:c.2245_2246dup	ENSP00000350283.3:p.Asp749GlufsTer5
ENST00000461221.5:c.*2028_*2029dup	ENSP00000418548.1:n.*2028_*2029dup
ENST00000468300.5:c.787+1458_787+1459dup	ENSP00000417148.1:n.787+1458_787+1459dup
ENST00000471181.6:c.2245_2246dup	ENSP00000418960.2:p.Asp749GlufsTer5
ENST00000478531.5:c.784+1458_784+1459dup	ENSP00000420412.1:n.784+1458_784+1459dup
ENST00000484087.5:c.409+1458_409+1459dup	ENSP00000419481.1:n.409+1458_409+1459dup
ENST00000487825.5:c.412+1458_412+1459dup	ENSP00000418212.1:n.412+1458_412+1459dup
ENST00000491747.6:c.787+1458_787+1459dup	ENSP00000420705.2:n.787+1458_787+1459dup
ENST00000493795.5:c.2104_2105dup	ENSP00000418775.1:p.Asp702GlufsTer5
ENST00000493919.5:c.646+1458_646+1459dup	ENSP00000418819.1:n.646+1458_646+1459dup
ENST00000586385.5:c.5-29335_5-29334dup	ENSP00000465818.1:n.5-29335_5-29334dup
ENST00000591534.5:c.-43-18765_-43-18764dup	ENSP00000467329.1:n.-43-18765_-43-18764dup
ENST00000591849.5:c.-99+31985_-99+31986dup	ENSP00000465347.1:n.-99+31985_-99+31986dup
ENST00000634433.1:c.2122_2123dup	ENSP00000489431.1:p.Asp708GlufsTer5
NM_007294.3:c.2245_2246dup , LRG_292t1:c.2245_2246dup	NP_009225.1:p.Asp749GlufsTer5
NM_007297.3:c.2104_2105dup	NP_009228.2:p.Asp702GlufsTer5
NM_007298.3:c.787+1458_787+1459dup	NP_009229.2:n.787+1458_787+1459dup
NM_007299.3:c.787+1458_787+1459dup	NP_009230.2:n.787+1458_787+1459dup
NM_007300.3:c.2245_2246dup	NP_009231.2:p.Asp749GlufsTer5
NR_027676.1:n.2381_2382dup
NM_007294.4:c.2245_2246dup MANE Select	NP_009225.1:p.Asp749GlufsTer5
NM_007297.4:c.2104_2105dup	NP_009228.2:p.Asp702GlufsTer5
NM_007299.4:c.787+1458_787+1459dup	NP_009230.2:n.787+1458_787+1459dup
NM_007300.4:c.2245_2246dup	NP_009231.2:p.Asp749GlufsTer5
NR_027676.2:n.2422_2423dup