Canonical Allele Identifier: CA2582342181

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2583827
• ClinVar RCV Id: RCV003334749 ; RCV003645354

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094293_43094296del , CM000679.2:g.43094293_43094296del	GRCh38
NC_000017.10:g.41246310_41246313del , CM000679.1:g.41246310_41246313del	GRCh37
NC_000017.9:g.38499836_38499839del	NCBI36
NG_005905.2:g.123688_123691del , LRG_292:g.123688_123691del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1299_1302del
ENST00000461574.2:c.1235_1238del	ENSP00000417241.2:p.Val412GlyfsTer4
ENST00000470026.6:c.1235_1238del	ENSP00000419274.2:p.Val412GlyfsTer4
ENST00000473961.6:c.1109_1112del	ENSP00000420201.2:p.Val370GlyfsTer4
ENST00000476777.6:c.1232_1235del	ENSP00000417554.2:p.Val411GlyfsTer4
ENST00000477152.6:c.1157_1160del	ENSP00000419988.2:p.Val386GlyfsTer4
ENST00000478531.6:c.784+448_784+451del	ENSP00000420412.2:n.784+448_784+451del
ENST00000489037.2:c.1157_1160del	ENSP00000420781.2:p.Val386GlyfsTer4
ENST00000493919.6:c.646+448_646+451del	ENSP00000418819.2:n.646+448_646+451del
ENST00000494123.6:c.1235_1238del	ENSP00000419103.2:p.Val412GlyfsTer4
ENST00000497488.2:c.347_350del	ENSP00000418986.2:p.Val116GlyfsTer4
ENST00000618469.2:c.1235_1238del	ENSP00000478114.2:p.Val412GlyfsTer4
ENST00000634433.2:c.1112_1115del	ENSP00000489431.2:p.Val371GlyfsTer4
ENST00000644379.2:c.1235_1238del	ENSP00000496570.2:p.Val412GlyfsTer4
ENST00000644555.2:c.646+448_646+451del	ENSP00000494614.2:n.646+448_646+451del
ENST00000652672.2:c.1094_1097del	ENSP00000498906.2:p.Val365GlyfsTer4
ENST00000484087.6:c.664+448_664+451del	ENSP00000419481.2:n.664+448_664+451del
ENST00000700182.1:c.706+448_706+451del	ENSP00000514849.1:n.706+448_706+451del
ENST00000700183.1:c.*1243_*1246del	ENSP00000514850.1:n.*1243_*1246del
ENST00000357654.9:c.1235_1238del MANE Select	ENSP00000350283.3:p.Val412GlyfsTer4
ENST00000471181.7:c.1235_1238del	ENSP00000418960.2:p.Val412GlyfsTer4
ENST00000652672.1:c.1094_1097del	ENSP00000498906.1:p.Val365GlyfsTer4
ENST00000352993.7:c.670+1550_670+1553del	ENSP00000312236.5:n.670+1550_670+1553del
ENST00000354071.7:c.1235_1238del	ENSP00000326002.7:p.Val412GlyfsTer4
ENST00000357654.7:c.1235_1238del	ENSP00000350283.3:p.Val412GlyfsTer4
ENST00000412061.3:c.586_589del
ENST00000461221.5:c.*1018_*1021del	ENSP00000418548.1:n.*1018_*1021del
ENST00000468300.5:c.787+448_787+451del	ENSP00000417148.1:n.787+448_787+451del
ENST00000470026.5:c.1235_1238del	ENSP00000419274.1:p.Val412GlyfsTer4
ENST00000471181.6:c.1235_1238del	ENSP00000418960.2:p.Val412GlyfsTer4
ENST00000473961.5:c.832_835del
ENST00000477152.5:c.1157_1160del	ENSP00000419988.1:p.Val386GlyfsTer4
ENST00000478531.5:c.784+448_784+451del	ENSP00000420412.1:n.784+448_784+451del
ENST00000484087.5:c.409+448_409+451del	ENSP00000419481.1:n.409+448_409+451del
ENST00000487825.5:c.412+448_412+451del	ENSP00000418212.1:n.412+448_412+451del
ENST00000491747.6:c.787+448_787+451del	ENSP00000420705.2:n.787+448_787+451del
ENST00000492859.5:c.*1171_*1174del	ENSP00000420253.1:n.*1171_*1174del
ENST00000493795.5:c.1094_1097del	ENSP00000418775.1:p.Val365GlyfsTer4
ENST00000493919.5:c.646+448_646+451del	ENSP00000418819.1:n.646+448_646+451del
ENST00000494123.5:c.1235_1238del	ENSP00000419103.1:p.Val412GlyfsTer4
ENST00000497488.1:c.347_350del	ENSP00000418986.1:p.Val116GlyfsTer4
ENST00000586385.5:c.5-30345_5-30342del	ENSP00000465818.1:n.5-30345_5-30342del
ENST00000591534.5:c.-43-19775_-43-19772del	ENSP00000467329.1:n.-43-19775_-43-19772del
ENST00000591849.5:c.-99+30975_-99+30978del	ENSP00000465347.1:n.-99+30975_-99+30978del
ENST00000634433.1:c.1112_1115del	ENSP00000489431.1:p.Val371GlyfsTer4
NM_007294.3:c.1235_1238del , LRG_292t1:c.1235_1238del	NP_009225.1:p.Val412GlyfsTer4
NM_007297.3:c.1094_1097del	NP_009228.2:p.Val365GlyfsTer4
NM_007298.3:c.787+448_787+451del	NP_009229.2:n.787+448_787+451del
NM_007299.3:c.787+448_787+451del	NP_009230.2:n.787+448_787+451del
NM_007300.3:c.1235_1238del	NP_009231.2:p.Val412GlyfsTer4
NR_027676.1:n.1371_1374del
NM_007294.4:c.1235_1238del MANE Select	NP_009225.1:p.Val412GlyfsTer4
NM_007297.4:c.1094_1097del	NP_009228.2:p.Val365GlyfsTer4
NM_007299.4:c.787+448_787+451del	NP_009230.2:n.787+448_787+451del
NM_007300.4:c.1235_1238del	NP_009231.2:p.Val412GlyfsTer4
NR_027676.2:n.1412_1415del