Canonical Allele Identifier: CA002278
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 142925
ClinVar RCV Id: RCV000132400
dbSNP Id: rs587782824

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091951_43091952insA , CM000679.2:g.43091951_43091952insA GRCh38
NC_000017.10:g.41243968_41243969insA , CM000679.1:g.41243968_41243969insA GRCh37
NC_000017.9:g.38497494_38497495insA NCBI36
NG_005905.2:g.126032_126033insT , LRG_292:g.126032_126033insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.3643_3644insT
ENST00000461574.2:c.3579_3580insT ENSP00000417241.2:p.Thr1194TyrfsTer25
ENST00000470026.6:c.3579_3580insT ENSP00000419274.2:p.Thr1194TyrfsTer25
ENST00000473961.6:c.3453_3454insT ENSP00000420201.2:p.Thr1152TyrfsTer25
ENST00000476777.6:c.3576_3577insT ENSP00000417554.2:p.Thr1193TyrfsTer25
ENST00000477152.6:c.3501_3502insT ENSP00000419988.2:p.Thr1168TyrfsTer25
ENST00000478531.6:c.785-920_785-919insT ENSP00000420412.2:n.785-920_785-919insT
ENST00000489037.2:c.3501_3502insT ENSP00000420781.2:p.Thr1168TyrfsTer25
ENST00000493919.6:c.647-920_647-919insT ENSP00000418819.2:n.647-920_647-919insT
ENST00000494123.6:c.3579_3580insT ENSP00000419103.2:p.Thr1194TyrfsTer25
ENST00000497488.2:c.2691_2692insT ENSP00000418986.2:p.Thr898TyrfsTer25
ENST00000618469.2:c.3579_3580insT ENSP00000478114.2:p.Thr1194TyrfsTer25
ENST00000634433.2:c.3456_3457insT ENSP00000489431.2:p.Thr1153TyrfsTer25
ENST00000644379.2:c.3579_3580insT ENSP00000496570.2:p.Thr1194TyrfsTer25
ENST00000644555.2:c.647-920_647-919insT ENSP00000494614.2:n.647-920_647-919insT
ENST00000652672.2:c.3438_3439insT ENSP00000498906.2:p.Thr1147TyrfsTer25
ENST00000484087.6:c.665-920_665-919insT ENSP00000419481.2:n.665-920_665-919insT
ENST00000700182.1:c.707-920_707-919insT ENSP00000514849.1:n.707-920_707-919insT
ENST00000357654.9:c.3579_3580insT MANE Select ENSP00000350283.3:p.Thr1194TyrfsTer25
ENST00000471181.7:c.3579_3580insT ENSP00000418960.2:p.Thr1194TyrfsTer25
ENST00000352993.7:c.671-920_671-919insT ENSP00000312236.5:n.671-920_671-919insT
ENST00000354071.7:c.3579_3580insT ENSP00000326002.7:p.Thr1194TyrfsTer25
ENST00000357654.7:c.3579_3580insT ENSP00000350283.3:p.Thr1194TyrfsTer25
ENST00000461221.5:c.*3362_*3363insT ENSP00000418548.1:n.*3362_*3363insT
ENST00000468300.5:c.788-920_788-919insT ENSP00000417148.1:n.788-920_788-919insT
ENST00000471181.6:c.3579_3580insT ENSP00000418960.2:p.Thr1194TyrfsTer25
ENST00000478531.5:c.785-920_785-919insT ENSP00000420412.1:n.785-920_785-919insT
ENST00000484087.5:c.410-920_410-919insT ENSP00000419481.1:n.410-920_410-919insT
ENST00000487825.5:c.413-920_413-919insT ENSP00000418212.1:n.413-920_413-919insT
ENST00000491747.6:c.788-920_788-919insT ENSP00000420705.2:n.788-920_788-919insT
ENST00000493795.5:c.3438_3439insT ENSP00000418775.1:p.Thr1147TyrfsTer25
ENST00000493919.5:c.647-920_647-919insT ENSP00000418819.1:n.647-920_647-919insT
ENST00000586385.5:c.5-28001_5-28000insT ENSP00000465818.1:n.5-28001_5-28000insT
ENST00000591534.5:c.-43-17431_-43-17430insT ENSP00000467329.1:n.-43-17431_-43-17430insT
ENST00000591849.5:c.-99+33319_-99+33320insT ENSP00000465347.1:n.-99+33319_-99+33320insT
NM_007294.3:c.3579_3580insT , LRG_292t1:c.3579_3580insT NP_009225.1:p.Thr1194TyrfsTer25
NM_007297.3:c.3438_3439insT NP_009228.2:p.Thr1147TyrfsTer25
NM_007298.3:c.788-920_788-919insT NP_009229.2:n.788-920_788-919insT
NM_007299.3:c.788-920_788-919insT NP_009230.2:n.788-920_788-919insT
NM_007300.3:c.3579_3580insT NP_009231.2:p.Thr1194TyrfsTer25
NR_027676.1:n.3715_3716insT
NM_007294.4:c.3579_3580insT MANE Select NP_009225.1:p.Thr1194TyrfsTer25
NM_007297.4:c.3438_3439insT NP_009228.2:p.Thr1147TyrfsTer25
NM_007299.4:c.788-920_788-919insT NP_009230.2:n.788-920_788-919insT
NM_007300.4:c.3579_3580insT NP_009231.2:p.Thr1194TyrfsTer25
NR_027676.2:n.3756_3757insT