Canonical Allele Identifier: CA913190566

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 634730
• ClinVar RCV Id: RCV000785387
• dbSNP Id: rs1567800087

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094231_43094261dup , CM000679.2:g.43094231_43094261dup	GRCh38
NC_000017.10:g.41246248_41246278dup , CM000679.1:g.41246248_41246278dup	GRCh37
NC_000017.9:g.38499774_38499804dup	NCBI36
NG_005905.2:g.123724_123754dup , LRG_292:g.123724_123754dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.1335_1365dup
ENST00000461574.2:c.1271_1301dup	ENSP00000417241.2:p.Ser434ArgfsTer12
ENST00000470026.6:c.1271_1301dup	ENSP00000419274.2:p.Ser434ArgfsTer12
ENST00000473961.6:c.1145_1175dup	ENSP00000420201.2:p.Ser392ArgfsTer12
ENST00000476777.6:c.1268_1298dup	ENSP00000417554.2:p.Ser433ArgfsTer12
ENST00000477152.6:c.1193_1223dup	ENSP00000419988.2:p.Ser408ArgfsTer12
ENST00000478531.6:c.784+484_784+514dup	ENSP00000420412.2:n.784+484_784+514dup
ENST00000489037.2:c.1193_1223dup	ENSP00000420781.2:p.Ser408ArgfsTer12
ENST00000493919.6:c.646+484_646+514dup	ENSP00000418819.2:n.646+484_646+514dup
ENST00000494123.6:c.1271_1301dup	ENSP00000419103.2:p.Ser434ArgfsTer12
ENST00000497488.2:c.383_413dup	ENSP00000418986.2:p.Ser138ArgfsTer12
ENST00000618469.2:c.1271_1301dup	ENSP00000478114.2:p.Ser434ArgfsTer12
ENST00000634433.2:c.1148_1178dup	ENSP00000489431.2:p.Ser393ArgfsTer12
ENST00000644379.2:c.1271_1301dup	ENSP00000496570.2:p.Ser434ArgfsTer12
ENST00000644555.2:c.646+484_646+514dup	ENSP00000494614.2:n.646+484_646+514dup
ENST00000652672.2:c.1130_1160dup	ENSP00000498906.2:p.Ser387ArgfsTer12
ENST00000484087.6:c.664+484_664+514dup	ENSP00000419481.2:n.664+484_664+514dup
ENST00000700182.1:c.706+484_706+514dup	ENSP00000514849.1:n.706+484_706+514dup
ENST00000700183.1:c.*1279_*1309dup	ENSP00000514850.1:n.*1279_*1309dup
ENST00000357654.9:c.1271_1301dup MANE Select	ENSP00000350283.3:p.Ser434ArgfsTer12
ENST00000471181.7:c.1271_1301dup	ENSP00000418960.2:p.Ser434ArgfsTer12
ENST00000652672.1:c.1130_1160dup	ENSP00000498906.1:p.Ser387ArgfsTer12
ENST00000352993.7:c.670+1586_670+1616dup	ENSP00000312236.5:n.670+1586_670+1616dup
ENST00000354071.7:c.1271_1301dup	ENSP00000326002.7:p.Ser434ArgfsTer12
ENST00000357654.7:c.1271_1301dup	ENSP00000350283.3:p.Ser434ArgfsTer12
ENST00000412061.3:c.622_652dup
ENST00000461221.5:c.*1054_*1084dup	ENSP00000418548.1:n.*1054_*1084dup
ENST00000468300.5:c.787+484_787+514dup	ENSP00000417148.1:n.787+484_787+514dup
ENST00000470026.5:c.1271_1301dup	ENSP00000419274.1:p.Ser434ArgfsTer12
ENST00000471181.6:c.1271_1301dup	ENSP00000418960.2:p.Ser434ArgfsTer12
ENST00000473961.5:c.868_898dup
ENST00000477152.5:c.1193_1223dup	ENSP00000419988.1:p.Ser408ArgfsTer12
ENST00000478531.5:c.784+484_784+514dup	ENSP00000420412.1:n.784+484_784+514dup
ENST00000484087.5:c.409+484_409+514dup	ENSP00000419481.1:n.409+484_409+514dup
ENST00000487825.5:c.412+484_412+514dup	ENSP00000418212.1:n.412+484_412+514dup
ENST00000491747.6:c.787+484_787+514dup	ENSP00000420705.2:n.787+484_787+514dup
ENST00000492859.5:c.*1207_*1237dup	ENSP00000420253.1:n.*1207_*1237dup
ENST00000493795.5:c.1130_1160dup	ENSP00000418775.1:p.Ser387ArgfsTer12
ENST00000493919.5:c.646+484_646+514dup	ENSP00000418819.1:n.646+484_646+514dup
ENST00000494123.5:c.1271_1301dup	ENSP00000419103.1:p.Ser434ArgfsTer12
ENST00000497488.1:c.383_413dup	ENSP00000418986.1:p.Ser138ArgfsTer12
ENST00000586385.5:c.5-30309_5-30279dup	ENSP00000465818.1:n.5-30309_5-30279dup
ENST00000591534.5:c.-43-19739_-43-19709dup	ENSP00000467329.1:n.-43-19739_-43-19709du...
ENST00000591849.5:c.-99+31011_-99+31041dup	ENSP00000465347.1:n.-99+31011_-99+31041du...
ENST00000634433.1:c.1148_1178dup	ENSP00000489431.1:p.Ser393ArgfsTer12
NM_007294.3:c.1271_1301dup , LRG_292t1:c.1271_1301dup	NP_009225.1:p.Ser434ArgfsTer12
NM_007297.3:c.1130_1160dup	NP_009228.2:p.Ser387ArgfsTer12
NM_007298.3:c.787+484_787+514dup	NP_009229.2:n.787+484_787+514dup
NM_007299.3:c.787+484_787+514dup	NP_009230.2:n.787+484_787+514dup
NM_007300.3:c.1271_1301dup	NP_009231.2:p.Ser434ArgfsTer12
NR_027676.1:n.1407_1437dup
NM_007294.4:c.1271_1301dup MANE Select	NP_009225.1:p.Ser434ArgfsTer12
NM_007297.4:c.1130_1160dup	NP_009228.2:p.Ser387ArgfsTer12
NM_007299.4:c.787+484_787+514dup	NP_009230.2:n.787+484_787+514dup
NM_007300.4:c.1271_1301dup	NP_009231.2:p.Ser434ArgfsTer12
NR_027676.2:n.1448_1478dup