Canonical Allele Identifier: CA1139665606
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 970661
ClinVar RCV Id: RCV001246268
dbSNP Id: rs2053473970

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091462_43091463delinsA , CM000679.2:g.43091462_43091463delinsA GRCh38
NC_000017.10:g.41243479_41243480delinsA , CM000679.1:g.41243479_41243480delinsA GRCh37
NC_000017.9:g.38497005_38497006delinsA NCBI36
NG_005905.2:g.126521_126522delinsT , LRG_292:g.126521_126522delinsT

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.4132_4133delinsT
ENST00000461574.2:c.4068_4069delinsT ENSP00000417241.2:p.Gln1356HisfsTer10
ENST00000470026.6:c.4068_4069delinsT ENSP00000419274.2:p.Gln1356HisfsTer10
ENST00000473961.6:c.3942_3943delinsT ENSP00000420201.2:p.Gln1314HisfsTer10
ENST00000476777.6:c.4065_4066delinsT ENSP00000417554.2:p.Gln1355HisfsTer10
ENST00000477152.6:c.3990_3991delinsT ENSP00000419988.2:p.Gln1330HisfsTer10
ENST00000478531.6:c.785-431_785-430delinsT ENSP00000420412.2:n.785-431_785-430delinsT
ENST00000489037.2:c.3990_3991delinsT ENSP00000420781.2:p.Gln1330HisfsTer10
ENST00000493919.6:c.647-431_647-430delinsT ENSP00000418819.2:n.647-431_647-430delinsT
ENST00000494123.6:c.4068_4069delinsT ENSP00000419103.2:p.Gln1356HisfsTer10
ENST00000497488.2:c.3180_3181delinsT ENSP00000418986.2:p.Gln1060HisfsTer10
ENST00000618469.2:c.4068_4069delinsT ENSP00000478114.2:p.Gln1356HisfsTer10
ENST00000634433.2:c.3945_3946delinsT ENSP00000489431.2:p.Gln1315HisfsTer10
ENST00000644379.2:c.4068_4069delinsT ENSP00000496570.2:p.Gln1356HisfsTer10
ENST00000644555.2:c.647-431_647-430delinsT ENSP00000494614.2:n.647-431_647-430delinsT
ENST00000652672.2:c.3927_3928delinsT ENSP00000498906.2:p.Gln1309HisfsTer10
ENST00000484087.6:c.665-431_665-430delinsT ENSP00000419481.2:n.665-431_665-430delinsT
ENST00000700182.1:c.707-431_707-430delinsT ENSP00000514849.1:n.707-431_707-430delinsT
ENST00000357654.9:c.4068_4069delinsT MANE Select ENSP00000350283.3:p.Gln1356HisfsTer10
ENST00000471181.7:c.4068_4069delinsT ENSP00000418960.2:p.Gln1356HisfsTer10
ENST00000644379.1:c.389_390delinsT
ENST00000352993.7:c.671-431_671-430delinsT ENSP00000312236.5:n.671-431_671-430delinsT
ENST00000354071.7:c.4068_4069delinsT ENSP00000326002.7:p.Gln1356HisfsTer10
ENST00000357654.7:c.4068_4069delinsT ENSP00000350283.3:p.Gln1356HisfsTer10
ENST00000461221.5:c.*3851_*3852delinsT ENSP00000418548.1:n.*3851_*3852delinsT
ENST00000461574.1:c.362_363delinsT
ENST00000468300.5:c.788-431_788-430delinsT ENSP00000417148.1:n.788-431_788-430delinsT
ENST00000471181.6:c.4068_4069delinsT ENSP00000418960.2:p.Gln1356HisfsTer10
ENST00000478531.5:c.785-431_785-430delinsT ENSP00000420412.1:n.785-431_785-430delinsT
ENST00000484087.5:c.410-431_410-430delinsT ENSP00000419481.1:n.410-431_410-430delinsT
ENST00000487825.5:c.413-431_413-430delinsT ENSP00000418212.1:n.413-431_413-430delinsT
ENST00000491747.6:c.788-431_788-430delinsT ENSP00000420705.2:n.788-431_788-430delinsT
ENST00000493795.5:c.3927_3928delinsT ENSP00000418775.1:p.Gln1309HisfsTer10
ENST00000493919.5:c.647-431_647-430delinsT ENSP00000418819.1:n.647-431_647-430delinsT
ENST00000586385.5:c.5-27512_5-27511delinsT ENSP00000465818.1:n.5-27512_5-27511delinsT
ENST00000591534.5:c.-43-16942_-43-16941delinsT ENSP00000467329.1:n.-43-16942_-43-16941delinsT
ENST00000591849.5:c.-99+33808_-99+33809delinsT ENSP00000465347.1:n.-99+33808_-99+33809delinsT
NM_007294.3:c.4068_4069delinsT , LRG_292t1:c.4068_4069delinsT NP_009225.1:p.Gln1356HisfsTer10
NM_007297.3:c.3927_3928delinsT NP_009228.2:p.Gln1309HisfsTer10
NM_007298.3:c.788-431_788-430delinsT NP_009229.2:n.788-431_788-430delinsT
NM_007299.3:c.788-431_788-430delinsT NP_009230.2:n.788-431_788-430delinsT
NM_007300.3:c.4068_4069delinsT NP_009231.2:p.Gln1356HisfsTer10
NR_027676.1:n.4204_4205delinsT
NM_007294.4:c.4068_4069delinsT MANE Select NP_009225.1:p.Gln1356HisfsTer10
NM_007297.4:c.3927_3928delinsT NP_009228.2:p.Gln1309HisfsTer10
NM_007299.4:c.788-431_788-430delinsT NP_009230.2:n.788-431_788-430delinsT
NM_007300.4:c.4068_4069delinsT NP_009231.2:p.Gln1356HisfsTer10
NR_027676.2:n.4245_4246delinsT