Canonical Allele Identifier: CA000914

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 91550
• ClinVar RCV Id: RCV000077067 ; RCV001280941
• dbSNP Id: rs398122633
• MyVariant Identifiers: chr17:g.41246170_41246171del (hg19) ; chr17:g.43094153_43094154del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094155_43094156del , CM000679.2:g.43094155_43094156del	GRCh38
NC_000017.10:g.41246172_41246173del , CM000679.1:g.41246172_41246173del	GRCh37
NC_000017.9:g.38499698_38499699del	NCBI36
NG_005905.2:g.123830_123831del , LRG_292:g.123830_123831del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1441_1442del
ENST00000461574.2:c.1377_1378del	ENSP00000417241.2:p.Lys459AsnfsTer20
ENST00000470026.6:c.1377_1378del	ENSP00000419274.2:p.Lys459AsnfsTer20
ENST00000473961.6:c.1251_1252del	ENSP00000420201.2:p.Lys417AsnfsTer20
ENST00000476777.6:c.1374_1375del	ENSP00000417554.2:p.Lys458AsnfsTer20
ENST00000477152.6:c.1299_1300del	ENSP00000419988.2:p.Lys433AsnfsTer20
ENST00000478531.6:c.784+590_784+591del	ENSP00000420412.2:n.784+590_784+591del
ENST00000489037.2:c.1299_1300del	ENSP00000420781.2:p.Lys433AsnfsTer20
ENST00000493919.6:c.646+590_646+591del	ENSP00000418819.2:n.646+590_646+591del
ENST00000494123.6:c.1377_1378del	ENSP00000419103.2:p.Lys459AsnfsTer20
ENST00000497488.2:c.489_490del	ENSP00000418986.2:p.Lys163AsnfsTer20
ENST00000618469.2:c.1377_1378del	ENSP00000478114.2:p.Lys459AsnfsTer20
ENST00000634433.2:c.1254_1255del	ENSP00000489431.2:p.Lys418AsnfsTer20
ENST00000644379.2:c.1377_1378del	ENSP00000496570.2:p.Lys459AsnfsTer20
ENST00000644555.2:c.646+590_646+591del	ENSP00000494614.2:n.646+590_646+591del
ENST00000652672.2:c.1236_1237del	ENSP00000498906.2:p.Lys412AsnfsTer20
ENST00000484087.6:c.664+590_664+591del	ENSP00000419481.2:n.664+590_664+591del
ENST00000700182.1:c.706+590_706+591del	ENSP00000514849.1:n.706+590_706+591del
ENST00000700183.1:c.*1385_*1386del	ENSP00000514850.1:n.*1385_*1386del
ENST00000357654.9:c.1377_1378del MANE Select	ENSP00000350283.3:p.Lys459AsnfsTer20
ENST00000471181.7:c.1377_1378del	ENSP00000418960.2:p.Lys459AsnfsTer20
ENST00000652672.1:c.1236_1237del	ENSP00000498906.1:p.Lys412AsnfsTer20
ENST00000352993.7:c.670+1692_670+1693del	ENSP00000312236.5:n.670+1692_670+1693del
ENST00000354071.7:c.1377_1378del	ENSP00000326002.7:p.Lys459AsnfsTer20
ENST00000357654.7:c.1377_1378del	ENSP00000350283.3:p.Lys459AsnfsTer20
ENST00000412061.3:c.728_729del
ENST00000461221.5:c.*1160_*1161del	ENSP00000418548.1:n.*1160_*1161del
ENST00000468300.5:c.787+590_787+591del	ENSP00000417148.1:n.787+590_787+591del
ENST00000470026.5:c.1377_1378del	ENSP00000419274.1:p.Lys459AsnfsTer20
ENST00000471181.6:c.1377_1378del	ENSP00000418960.2:p.Lys459AsnfsTer20
ENST00000477152.5:c.1299_1300del	ENSP00000419988.1:p.Lys433AsnfsTer20
ENST00000478531.5:c.784+590_784+591del	ENSP00000420412.1:n.784+590_784+591del
ENST00000484087.5:c.409+590_409+591del	ENSP00000419481.1:n.409+590_409+591del
ENST00000487825.5:c.412+590_412+591del	ENSP00000418212.1:n.412+590_412+591del
ENST00000491747.6:c.787+590_787+591del	ENSP00000420705.2:n.787+590_787+591del
ENST00000492859.5:c.*1313_*1314del	ENSP00000420253.1:n.*1313_*1314del
ENST00000493795.5:c.1236_1237del	ENSP00000418775.1:p.Lys412AsnfsTer20
ENST00000493919.5:c.646+590_646+591del	ENSP00000418819.1:n.646+590_646+591del
ENST00000494123.5:c.1377_1378del	ENSP00000419103.1:p.Lys459AsnfsTer?
ENST00000497488.1:c.489_490del	ENSP00000418986.1:p.Lys163AsnfsTer?
ENST00000586385.5:c.5-30203_5-30202del	ENSP00000465818.1:n.5-30203_5-30202del
ENST00000591534.5:c.-43-19633_-43-19632del	ENSP00000467329.1:n.-43-19633_-43-19632del
ENST00000591849.5:c.-99+31117_-99+31118del	ENSP00000465347.1:n.-99+31117_-99+31118del
ENST00000634433.1:c.1254_1255del	ENSP00000489431.1:p.Lys418AsnfsTer20
NM_007294.3:c.1377_1378del , LRG_292t1:c.1377_1378del	NP_009225.1:p.Lys459AsnfsTer20
NM_007297.3:c.1236_1237del	NP_009228.2:p.Lys412AsnfsTer20
NM_007298.3:c.787+590_787+591del	NP_009229.2:n.787+590_787+591del
NM_007299.3:c.787+590_787+591del	NP_009230.2:n.787+590_787+591del
NM_007300.3:c.1377_1378del	NP_009231.2:p.Lys459AsnfsTer20
NR_027676.1:n.1513_1514del
NM_007294.4:c.1377_1378del MANE Select	NP_009225.1:p.Lys459AsnfsTer20
NM_007297.4:c.1236_1237del	NP_009228.2:p.Lys412AsnfsTer20
NM_007299.4:c.787+590_787+591del	NP_009230.2:n.787+590_787+591del
NM_007300.4:c.1377_1378del	NP_009231.2:p.Lys459AsnfsTer20
NR_027676.2:n.1554_1555del