Canonical Allele Identifier: CA2809539194

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094437_43094453del , CM000679.2:g.43094437_43094453del	GRCh38
NC_000017.10:g.41246454_41246470del , CM000679.1:g.41246454_41246470del	GRCh37
NC_000017.9:g.38499980_38499996del	NCBI36
NG_005905.2:g.123531_123547del , LRG_292:g.123531_123547del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1142_1158del
ENST00000461574.2:c.1078_1094del	ENSP00000417241.2:p.Cys360ArgfsTer3
ENST00000470026.6:c.1078_1094del	ENSP00000419274.2:p.Cys360ArgfsTer3
ENST00000473961.6:c.952_968del	ENSP00000420201.2:p.Cys318ArgfsTer3
ENST00000476777.6:c.1075_1091del	ENSP00000417554.2:p.Cys359ArgfsTer3
ENST00000477152.6:c.1000_1016del	ENSP00000419988.2:p.Cys334ArgfsTer3
ENST00000478531.6:c.784+291_784+307del	ENSP00000420412.2:n.784+291_784+307del
ENST00000489037.2:c.1000_1016del	ENSP00000420781.2:p.Cys334ArgfsTer3
ENST00000493919.6:c.646+291_646+307del	ENSP00000418819.2:n.646+291_646+307del
ENST00000494123.6:c.1078_1094del	ENSP00000419103.2:p.Cys360ArgfsTer3
ENST00000497488.2:c.190_206del	ENSP00000418986.2:p.Cys64ArgfsTer3
ENST00000618469.2:c.1078_1094del	ENSP00000478114.2:p.Cys360ArgfsTer3
ENST00000634433.2:c.955_971del	ENSP00000489431.2:p.Cys319ArgfsTer3
ENST00000644379.2:c.1078_1094del	ENSP00000496570.2:p.Cys360ArgfsTer3
ENST00000644555.2:c.646+291_646+307del	ENSP00000494614.2:n.646+291_646+307del
ENST00000652672.2:c.937_953del	ENSP00000498906.2:p.Cys313ArgfsTer3
ENST00000484087.6:c.664+291_664+307del	ENSP00000419481.2:n.664+291_664+307del
ENST00000700182.1:c.706+291_706+307del	ENSP00000514849.1:n.706+291_706+307del
ENST00000700183.1:c.*1086_*1102del	ENSP00000514850.1:n.*1086_*1102del
ENST00000357654.9:c.1078_1094del MANE Select	ENSP00000350283.3:p.Cys360ArgfsTer3
ENST00000471181.7:c.1078_1094del	ENSP00000418960.2:p.Cys360ArgfsTer3
ENST00000652672.1:c.937_953del	ENSP00000498906.1:p.Cys313ArgfsTer3
ENST00000352993.7:c.670+1393_670+1409del	ENSP00000312236.5:n.670+1393_670+1409del
ENST00000354071.7:c.1078_1094del	ENSP00000326002.7:p.Cys360ArgfsTer3
ENST00000357654.7:c.1078_1094del	ENSP00000350283.3:p.Cys360ArgfsTer3
ENST00000412061.3:c.429_445del
ENST00000461221.5:c.*861_*877del	ENSP00000418548.1:n.*861_*877del
ENST00000468300.5:c.787+291_787+307del	ENSP00000417148.1:n.787+291_787+307del
ENST00000470026.5:c.1078_1094del	ENSP00000419274.1:p.Cys360ArgfsTer3
ENST00000471181.6:c.1078_1094del	ENSP00000418960.2:p.Cys360ArgfsTer3
ENST00000473961.5:c.675_691del
ENST00000477152.5:c.1000_1016del	ENSP00000419988.1:p.Cys334ArgfsTer3
ENST00000478531.5:c.784+291_784+307del	ENSP00000420412.1:n.784+291_784+307del
ENST00000484087.5:c.409+291_409+307del	ENSP00000419481.1:n.409+291_409+307del
ENST00000487825.5:c.412+291_412+307del	ENSP00000418212.1:n.412+291_412+307del
ENST00000491747.6:c.787+291_787+307del	ENSP00000420705.2:n.787+291_787+307del
ENST00000492859.5:c.*1014_*1030del	ENSP00000420253.1:n.*1014_*1030del
ENST00000493795.5:c.937_953del	ENSP00000418775.1:p.Cys313ArgfsTer3
ENST00000493919.5:c.646+291_646+307del	ENSP00000418819.1:n.646+291_646+307del
ENST00000494123.5:c.1078_1094del	ENSP00000419103.1:p.Cys360ArgfsTer3
ENST00000497488.1:c.190_206del	ENSP00000418986.1:p.Cys64ArgfsTer3
ENST00000586385.5:c.5-30502_5-30486del	ENSP00000465818.1:n.5-30502_5-30486del
ENST00000591534.5:c.-43-19932_-43-19916del	ENSP00000467329.1:n.-43-19932_-43-19916del
ENST00000591849.5:c.-99+30818_-99+30834del	ENSP00000465347.1:n.-99+30818_-99+30834del
ENST00000634433.1:c.955_971del	ENSP00000489431.1:p.Cys319ArgfsTer3
NM_007294.3:c.1078_1094del , LRG_292t1:c.1078_1094del	NP_009225.1:p.Cys360ArgfsTer3
NM_007297.3:c.937_953del	NP_009228.2:p.Cys313ArgfsTer3
NM_007298.3:c.787+291_787+307del	NP_009229.2:n.787+291_787+307del
NM_007299.3:c.787+291_787+307del	NP_009230.2:n.787+291_787+307del
NM_007300.3:c.1078_1094del	NP_009231.2:p.Cys360ArgfsTer3
NR_027676.1:n.1214_1230del
NM_007294.4:c.1078_1094del MANE Select	NP_009225.1:p.Cys360ArgfsTer3
NM_007297.4:c.937_953del	NP_009228.2:p.Cys313ArgfsTer3
NM_007299.4:c.787+291_787+307del	NP_009230.2:n.787+291_787+307del
NM_007300.4:c.1078_1094del	NP_009231.2:p.Cys360ArgfsTer3
NR_027676.2:n.1255_1271del