Canonical Allele Identifier: CA3050533249

Gene: BRCA1

Linked Data - Expert Curation

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094336_43094352dup , CM000679.2:g.43094336_43094352dup	GRCh38
NC_000017.10:g.41246353_41246369dup , CM000679.1:g.41246353_41246369dup	GRCh37
NC_000017.9:g.38499879_38499895dup	NCBI36
NG_005905.2:g.123633_123649dup , LRG_292:g.123633_123649dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1244_1260dup
ENST00000461574.2:c.1180_1196dup	ENSP00000417241.2:p.His399GlnfsTer17
ENST00000470026.6:c.1180_1196dup	ENSP00000419274.2:p.His399GlnfsTer17
ENST00000473961.6:c.1054_1070dup	ENSP00000420201.2:p.His357GlnfsTer17
ENST00000476777.6:c.1177_1193dup	ENSP00000417554.2:p.His398GlnfsTer17
ENST00000477152.6:c.1102_1118dup	ENSP00000419988.2:p.His373GlnfsTer17
ENST00000478531.6:c.784+393_784+409dup	ENSP00000420412.2:n.784+393_784+409dup
ENST00000489037.2:c.1102_1118dup	ENSP00000420781.2:p.His373GlnfsTer17
ENST00000493919.6:c.646+393_646+409dup	ENSP00000418819.2:n.646+393_646+409dup
ENST00000494123.6:c.1180_1196dup	ENSP00000419103.2:p.His399GlnfsTer17
ENST00000497488.2:c.292_308dup	ENSP00000418986.2:p.His103GlnfsTer17
ENST00000618469.2:c.1180_1196dup	ENSP00000478114.2:p.His399GlnfsTer17
ENST00000634433.2:c.1057_1073dup	ENSP00000489431.2:p.His358GlnfsTer17
ENST00000644379.2:c.1180_1196dup	ENSP00000496570.2:p.His399GlnfsTer17
ENST00000644555.2:c.646+393_646+409dup	ENSP00000494614.2:n.646+393_646+409dup
ENST00000652672.2:c.1039_1055dup	ENSP00000498906.2:p.His352GlnfsTer17
ENST00000484087.6:c.664+393_664+409dup	ENSP00000419481.2:n.664+393_664+409dup
ENST00000700182.1:c.706+393_706+409dup	ENSP00000514849.1:n.706+393_706+409dup
ENST00000700183.1:c.*1188_*1204dup	ENSP00000514850.1:n.*1188_*1204dup
ENST00000357654.9:c.1180_1196dup MANE Select	ENSP00000350283.3:p.His399GlnfsTer17
ENST00000471181.7:c.1180_1196dup	ENSP00000418960.2:p.His399GlnfsTer17
ENST00000652672.1:c.1039_1055dup	ENSP00000498906.1:p.His352GlnfsTer17
ENST00000352993.7:c.670+1495_670+1511dup	ENSP00000312236.5:n.670+1495_670+1511dup
ENST00000354071.7:c.1180_1196dup	ENSP00000326002.7:p.His399GlnfsTer17
ENST00000357654.7:c.1180_1196dup	ENSP00000350283.3:p.His399GlnfsTer17
ENST00000412061.3:c.531_547dup
ENST00000461221.5:c.*963_*979dup	ENSP00000418548.1:n.*963_*979dup
ENST00000468300.5:c.787+393_787+409dup	ENSP00000417148.1:n.787+393_787+409dup
ENST00000470026.5:c.1180_1196dup	ENSP00000419274.1:p.His399GlnfsTer17
ENST00000471181.6:c.1180_1196dup	ENSP00000418960.2:p.His399GlnfsTer17
ENST00000473961.5:c.777_793dup
ENST00000477152.5:c.1102_1118dup	ENSP00000419988.1:p.His373GlnfsTer17
ENST00000478531.5:c.784+393_784+409dup	ENSP00000420412.1:n.784+393_784+409dup
ENST00000484087.5:c.409+393_409+409dup	ENSP00000419481.1:n.409+393_409+409dup
ENST00000487825.5:c.412+393_412+409dup	ENSP00000418212.1:n.412+393_412+409dup
ENST00000491747.6:c.787+393_787+409dup	ENSP00000420705.2:n.787+393_787+409dup
ENST00000492859.5:c.*1116_*1132dup	ENSP00000420253.1:n.*1116_*1132dup
ENST00000493795.5:c.1039_1055dup	ENSP00000418775.1:p.His352GlnfsTer17
ENST00000493919.5:c.646+393_646+409dup	ENSP00000418819.1:n.646+393_646+409dup
ENST00000494123.5:c.1180_1196dup	ENSP00000419103.1:p.His399GlnfsTer17
ENST00000497488.1:c.292_308dup	ENSP00000418986.1:p.His103GlnfsTer17
ENST00000586385.5:c.5-30400_5-30384dup	ENSP00000465818.1:n.5-30400_5-30384dup
ENST00000591534.5:c.-43-19830_-43-19814dup	ENSP00000467329.1:n.-43-19830_-43-19814dup
ENST00000591849.5:c.-99+30920_-99+30936dup	ENSP00000465347.1:n.-99+30920_-99+30936dup
ENST00000634433.1:c.1057_1073dup	ENSP00000489431.1:p.His358GlnfsTer17
NM_007294.3:c.1180_1196dup , LRG_292t1:c.1180_1196dup	NP_009225.1:p.His399GlnfsTer17
NM_007297.3:c.1039_1055dup	NP_009228.2:p.His352GlnfsTer17
NM_007298.3:c.787+393_787+409dup	NP_009229.2:n.787+393_787+409dup
NM_007299.3:c.787+393_787+409dup	NP_009230.2:n.787+393_787+409dup
NM_007300.3:c.1180_1196dup	NP_009231.2:p.His399GlnfsTer17
NR_027676.1:n.1316_1332dup
NM_007294.4:c.1180_1196dup MANE Select	NP_009225.1:p.His399GlnfsTer17
NM_007297.4:c.1039_1055dup	NP_009228.2:p.His352GlnfsTer17
NM_007299.4:c.787+393_787+409dup	NP_009230.2:n.787+393_787+409dup
NM_007300.4:c.1180_1196dup	NP_009231.2:p.His399GlnfsTer17
NR_027676.2:n.1357_1373dup