Canonical Allele Identifier: CA000781

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 37397
• ClinVar RCV Id: RCV000030978
• dbSNP Id: rs397507183
• MyVariant Identifiers: chr17:g.41246330_41246373del (hg19) ; chr17:g.43094313_43094356del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094313_43094356del , CM000679.2:g.43094313_43094356del	GRCh38
NC_000017.10:g.41246330_41246373del , CM000679.1:g.41246330_41246373del	GRCh37
NC_000017.9:g.38499856_38499899del	NCBI36
NG_005905.2:g.123628_123671del , LRG_292:g.123628_123671del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.1239_1282del
ENST00000461574.2:c.1175_1218del	ENSP00000417241.2:p.Leu392ArgfsTer5
ENST00000470026.6:c.1175_1218del	ENSP00000419274.2:p.Leu392ArgfsTer5
ENST00000473961.6:c.1049_1092del	ENSP00000420201.2:p.Leu350ArgfsTer5
ENST00000476777.6:c.1172_1215del	ENSP00000417554.2:p.Leu391ArgfsTer5
ENST00000477152.6:c.1097_1140del	ENSP00000419988.2:p.Leu366ArgfsTer5
ENST00000478531.6:c.784+388_784+431del	ENSP00000420412.2:n.784+388_784+431del
ENST00000489037.2:c.1097_1140del	ENSP00000420781.2:p.Leu366ArgfsTer5
ENST00000493919.6:c.646+388_646+431del	ENSP00000418819.2:n.646+388_646+431del
ENST00000494123.6:c.1175_1218del	ENSP00000419103.2:p.Leu392ArgfsTer5
ENST00000497488.2:c.287_330del	ENSP00000418986.2:p.Leu96ArgfsTer5
ENST00000618469.2:c.1175_1218del	ENSP00000478114.2:p.Leu392ArgfsTer5
ENST00000634433.2:c.1052_1095del	ENSP00000489431.2:p.Leu351ArgfsTer5
ENST00000644379.2:c.1175_1218del	ENSP00000496570.2:p.Leu392ArgfsTer5
ENST00000644555.2:c.646+388_646+431del	ENSP00000494614.2:n.646+388_646+431del
ENST00000652672.2:c.1034_1077del	ENSP00000498906.2:p.Leu345ArgfsTer5
ENST00000484087.6:c.664+388_664+431del	ENSP00000419481.2:n.664+388_664+431del
ENST00000700182.1:c.706+388_706+431del	ENSP00000514849.1:n.706+388_706+431del
ENST00000700183.1:c.*1183_*1226del	ENSP00000514850.1:n.*1183_*1226del
ENST00000357654.9:c.1175_1218del MANE Select	ENSP00000350283.3:p.Leu392ArgfsTer5
ENST00000471181.7:c.1175_1218del	ENSP00000418960.2:p.Leu392ArgfsTer5
ENST00000652672.1:c.1034_1077del	ENSP00000498906.1:p.Leu345ArgfsTer5
ENST00000352993.7:c.670+1490_670+1533del	ENSP00000312236.5:n.670+1490_670+1533del
ENST00000354071.7:c.1175_1218del	ENSP00000326002.7:p.Leu392ArgfsTer5
ENST00000357654.7:c.1175_1218del	ENSP00000350283.3:p.Leu392ArgfsTer5
ENST00000412061.3:c.526_569del
ENST00000461221.5:c.*958_*1001del	ENSP00000418548.1:n.*958_*1001del
ENST00000468300.5:c.787+388_787+431del	ENSP00000417148.1:n.787+388_787+431del
ENST00000470026.5:c.1175_1218del	ENSP00000419274.1:p.Leu392ArgfsTer5
ENST00000471181.6:c.1175_1218del	ENSP00000418960.2:p.Leu392ArgfsTer5
ENST00000473961.5:c.772_815del
ENST00000477152.5:c.1097_1140del	ENSP00000419988.1:p.Leu366ArgfsTer5
ENST00000478531.5:c.784+388_784+431del	ENSP00000420412.1:n.784+388_784+431del
ENST00000484087.5:c.409+388_409+431del	ENSP00000419481.1:n.409+388_409+431del
ENST00000487825.5:c.412+388_412+431del	ENSP00000418212.1:n.412+388_412+431del
ENST00000491747.6:c.787+388_787+431del	ENSP00000420705.2:n.787+388_787+431del
ENST00000492859.5:c.*1111_*1154del	ENSP00000420253.1:n.*1111_*1154del
ENST00000493795.5:c.1034_1077del	ENSP00000418775.1:p.Leu345ArgfsTer5
ENST00000493919.5:c.646+388_646+431del	ENSP00000418819.1:n.646+388_646+431del
ENST00000494123.5:c.1175_1218del	ENSP00000419103.1:p.Leu392ArgfsTer5
ENST00000497488.1:c.287_330del	ENSP00000418986.1:p.Leu96ArgfsTer5
ENST00000586385.5:c.5-30405_5-30362del	ENSP00000465818.1:n.5-30405_5-30362del
ENST00000591534.5:c.-43-19835_-43-19792del	ENSP00000467329.1:n.-43-19835_-43-19792de...
ENST00000591849.5:c.-99+30915_-99+30958del	ENSP00000465347.1:n.-99+30915_-99+30958de...
ENST00000634433.1:c.1052_1095del	ENSP00000489431.1:p.Leu351ArgfsTer5
NM_007294.3:c.1175_1218del , LRG_292t1:c.1175_1218del	NP_009225.1:p.Leu392ArgfsTer5
NM_007297.3:c.1034_1077del	NP_009228.2:p.Leu345ArgfsTer5
NM_007298.3:c.787+388_787+431del	NP_009229.2:n.787+388_787+431del
NM_007299.3:c.787+388_787+431del	NP_009230.2:n.787+388_787+431del
NM_007300.3:c.1175_1218del	NP_009231.2:p.Leu392ArgfsTer5
NR_027676.1:n.1311_1354del
NM_007294.4:c.1175_1218del MANE Select	NP_009225.1:p.Leu392ArgfsTer5
NM_007297.4:c.1034_1077del	NP_009228.2:p.Leu345ArgfsTer5
NM_007299.4:c.787+388_787+431del	NP_009230.2:n.787+388_787+431del
NM_007300.4:c.1175_1218del	NP_009231.2:p.Leu392ArgfsTer5
NR_027676.2:n.1352_1395del