Canonical Allele Identifier: CA000864
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 91544
ClinVar RCV Id: RCV002381392
dbSNP Id: rs80357543
MyVariant Identifiers: chr17:g.41246222_41246223dupAC (hg19) chr17:g.41246221_41246222insAC (hg19) chr17:g.43094205_43094206dupAC (hg38) chr17:g.43094204_43094205insAC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094206_43094207dup , CM000679.2:g.43094206_43094207dup GRCh38
NC_000017.10:g.41246223_41246224dup , CM000679.1:g.41246223_41246224dup GRCh37
NC_000017.9:g.38499749_38499750dup NCBI36
NG_005905.2:g.123778_123779dup , LRG_292:g.123778_123779dup

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.1389_1390dup
ENST00000461574.2:c.1325_1326dup ENSP00000417241.2:p.Lys443ValfsTer11
ENST00000470026.6:c.1325_1326dup ENSP00000419274.2:p.Lys443ValfsTer11
ENST00000473961.6:c.1199_1200dup ENSP00000420201.2:p.Lys401ValfsTer11
ENST00000476777.6:c.1322_1323dup ENSP00000417554.2:p.Lys442ValfsTer11
ENST00000477152.6:c.1247_1248dup ENSP00000419988.2:p.Lys417ValfsTer11
ENST00000478531.6:c.784+538_784+539dup ENSP00000420412.2:n.784+538_784+539dup
ENST00000489037.2:c.1247_1248dup ENSP00000420781.2:p.Lys417ValfsTer11
ENST00000493919.6:c.646+538_646+539dup ENSP00000418819.2:n.646+538_646+539dup
ENST00000494123.6:c.1325_1326dup ENSP00000419103.2:p.Lys443ValfsTer11
ENST00000497488.2:c.437_438dup ENSP00000418986.2:p.Lys147ValfsTer11
ENST00000618469.2:c.1325_1326dup ENSP00000478114.2:p.Lys443ValfsTer11
ENST00000634433.2:c.1202_1203dup ENSP00000489431.2:p.Lys402ValfsTer11
ENST00000644379.2:c.1325_1326dup ENSP00000496570.2:p.Lys443ValfsTer11
ENST00000644555.2:c.646+538_646+539dup ENSP00000494614.2:n.646+538_646+539dup
ENST00000652672.2:c.1184_1185dup ENSP00000498906.2:p.Lys396ValfsTer11
ENST00000484087.6:c.664+538_664+539dup ENSP00000419481.2:n.664+538_664+539dup
ENST00000700182.1:c.706+538_706+539dup ENSP00000514849.1:n.706+538_706+539dup
ENST00000700183.1:c.*1333_*1334dup ENSP00000514850.1:n.*1333_*1334dup
ENST00000357654.9:c.1325_1326dup MANE Select ENSP00000350283.3:p.Lys443ValfsTer11
ENST00000471181.7:c.1325_1326dup ENSP00000418960.2:p.Lys443ValfsTer11
ENST00000652672.1:c.1184_1185dup ENSP00000498906.1:p.Lys396ValfsTer11
ENST00000352993.7:c.670+1640_670+1641dup ENSP00000312236.5:n.670+1640_670+1641dup
ENST00000354071.7:c.1325_1326dup ENSP00000326002.7:p.Lys443ValfsTer11
ENST00000357654.7:c.1325_1326dup ENSP00000350283.3:p.Lys443ValfsTer11
ENST00000412061.3:c.676_677dup
ENST00000461221.5:c.*1108_*1109dup ENSP00000418548.1:n.*1108_*1109dup
ENST00000468300.5:c.787+538_787+539dup ENSP00000417148.1:n.787+538_787+539dup
ENST00000470026.5:c.1325_1326dup ENSP00000419274.1:p.Lys443ValfsTer11
ENST00000471181.6:c.1325_1326dup ENSP00000418960.2:p.Lys443ValfsTer11
ENST00000473961.5:c.922_923dup
ENST00000477152.5:c.1247_1248dup ENSP00000419988.1:p.Lys417ValfsTer11
ENST00000478531.5:c.784+538_784+539dup ENSP00000420412.1:n.784+538_784+539dup
ENST00000484087.5:c.409+538_409+539dup ENSP00000419481.1:n.409+538_409+539dup
ENST00000487825.5:c.412+538_412+539dup ENSP00000418212.1:n.412+538_412+539dup
ENST00000491747.6:c.787+538_787+539dup ENSP00000420705.2:n.787+538_787+539dup
ENST00000492859.5:c.*1261_*1262dup ENSP00000420253.1:n.*1261_*1262dup
ENST00000493795.5:c.1184_1185dup ENSP00000418775.1:p.Lys396ValfsTer11
ENST00000493919.5:c.646+538_646+539dup ENSP00000418819.1:n.646+538_646+539dup
ENST00000494123.5:c.1325_1326dup ENSP00000419103.1:p.Lys443ValfsTer11
ENST00000497488.1:c.437_438dup ENSP00000418986.1:p.Lys147ValfsTer11
ENST00000586385.5:c.5-30255_5-30254dup ENSP00000465818.1:n.5-30255_5-30254dup
ENST00000591534.5:c.-43-19685_-43-19684dup ENSP00000467329.1:n.-43-19685_-43-19684du...
ENST00000591849.5:c.-99+31065_-99+31066dup ENSP00000465347.1:n.-99+31065_-99+31066du...
ENST00000634433.1:c.1202_1203dup ENSP00000489431.1:p.Lys402ValfsTer11
NM_007294.3:c.1325_1326dup , LRG_292t1:c.1325_1326dup NP_009225.1:p.Lys443ValfsTer11
NM_007297.3:c.1184_1185dup NP_009228.2:p.Lys396ValfsTer11
NM_007298.3:c.787+538_787+539dup NP_009229.2:n.787+538_787+539dup
NM_007299.3:c.787+538_787+539dup NP_009230.2:n.787+538_787+539dup
NM_007300.3:c.1325_1326dup NP_009231.2:p.Lys443ValfsTer11
NR_027676.1:n.1461_1462dup
NM_007294.4:c.1325_1326dup MANE Select NP_009225.1:p.Lys443ValfsTer11
NM_007297.4:c.1184_1185dup NP_009228.2:p.Lys396ValfsTer11
NM_007299.4:c.787+538_787+539dup NP_009230.2:n.787+538_787+539dup
NM_007300.4:c.1325_1326dup NP_009231.2:p.Lys443ValfsTer11
NR_027676.2:n.1502_1503dup
Search 100 bp 5'
Search 100 bp 3'