Canonical Allele Identifier: CA10589777
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 266339
ClinVar RCV Id: RCV000257046
dbSNP Id: rs1555588199

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092325_43092383dup , CM000679.2:g.43092325_43092383dup GRCh38
NC_000017.10:g.41244342_41244400dup , CM000679.1:g.41244342_41244400dup GRCh37
NC_000017.9:g.38497868_38497926dup NCBI36
NG_005905.2:g.125603_125661dup , LRG_292:g.125603_125661dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.3214_3272dup
ENST00000461574.2:c.3150_3208dup ENSP00000417241.2:p.Ala1070ValfsTer12
ENST00000470026.6:c.3150_3208dup ENSP00000419274.2:p.Ala1070ValfsTer12
ENST00000473961.6:c.3024_3082dup ENSP00000420201.2:p.Ala1028ValfsTer12
ENST00000476777.6:c.3147_3205dup ENSP00000417554.2:p.Ala1069ValfsTer12
ENST00000477152.6:c.3072_3130dup ENSP00000419988.2:p.Ala1044ValfsTer12
ENST00000478531.6:c.785-1349_785-1291dup ENSP00000420412.2:n.785-1349_785-1291dup
ENST00000489037.2:c.3072_3130dup ENSP00000420781.2:p.Ala1044ValfsTer12
ENST00000493919.6:c.647-1349_647-1291dup ENSP00000418819.2:n.647-1349_647-1291dup
ENST00000494123.6:c.3150_3208dup ENSP00000419103.2:p.Ala1070ValfsTer12
ENST00000497488.2:c.2262_2320dup ENSP00000418986.2:p.Ala774ValfsTer12
ENST00000618469.2:c.3150_3208dup ENSP00000478114.2:p.Ala1070ValfsTer12
ENST00000634433.2:c.3027_3085dup ENSP00000489431.2:p.Ala1029ValfsTer12
ENST00000644379.2:c.3150_3208dup ENSP00000496570.2:p.Ala1070ValfsTer12
ENST00000644555.2:c.647-1349_647-1291dup ENSP00000494614.2:n.647-1349_647-1291dup
ENST00000652672.2:c.3009_3067dup ENSP00000498906.2:p.Ala1023ValfsTer12
ENST00000484087.6:c.665-1349_665-1291dup ENSP00000419481.2:n.665-1349_665-1291dup
ENST00000700182.1:c.707-1349_707-1291dup ENSP00000514849.1:n.707-1349_707-1291dup
ENST00000357654.9:c.3150_3208dup MANE Select ENSP00000350283.3:p.Ala1070ValfsTer12
ENST00000471181.7:c.3150_3208dup ENSP00000418960.2:p.Ala1070ValfsTer12
ENST00000352993.7:c.671-1349_671-1291dup ENSP00000312236.5:n.671-1349_671-1291dup
ENST00000354071.7:c.3150_3208dup ENSP00000326002.7:p.Ala1070ValfsTer12
ENST00000357654.7:c.3150_3208dup ENSP00000350283.3:p.Ala1070ValfsTer12
ENST00000461221.5:c.*2933_*2991dup ENSP00000418548.1:n.*2933_*2991dup
ENST00000468300.5:c.788-1349_788-1291dup ENSP00000417148.1:n.788-1349_788-1291dup
ENST00000471181.6:c.3150_3208dup ENSP00000418960.2:p.Ala1070ValfsTer12
ENST00000478531.5:c.785-1349_785-1291dup ENSP00000420412.1:n.785-1349_785-1291dup
ENST00000484087.5:c.410-1349_410-1291dup ENSP00000419481.1:n.410-1349_410-1291dup
ENST00000487825.5:c.413-1349_413-1291dup ENSP00000418212.1:n.413-1349_413-1291dup
ENST00000491747.6:c.788-1349_788-1291dup ENSP00000420705.2:n.788-1349_788-1291dup
ENST00000493795.5:c.3009_3067dup ENSP00000418775.1:p.Ala1023ValfsTer12
ENST00000493919.5:c.647-1349_647-1291dup ENSP00000418819.1:n.647-1349_647-1291dup
ENST00000586385.5:c.5-28430_5-28372dup ENSP00000465818.1:n.5-28430_5-28372dup
ENST00000591534.5:c.-43-17860_-43-17802dup ENSP00000467329.1:n.-43-17860_-43-17802dup
ENST00000591849.5:c.-99+32890_-99+32948dup ENSP00000465347.1:n.-99+32890_-99+32948dup
NM_007294.3:c.3150_3208dup , LRG_292t1:c.3150_3208dup NP_009225.1:p.Ala1070ValfsTer12
NM_007297.3:c.3009_3067dup NP_009228.2:p.Ala1023ValfsTer12
NM_007298.3:c.788-1349_788-1291dup NP_009229.2:n.788-1349_788-1291dup
NM_007299.3:c.788-1349_788-1291dup NP_009230.2:n.788-1349_788-1291dup
NM_007300.3:c.3150_3208dup NP_009231.2:p.Ala1070ValfsTer12
NR_027676.1:n.3286_3344dup
NM_007294.4:c.3150_3208dup MANE Select NP_009225.1:p.Ala1070ValfsTer12
NM_007297.4:c.3009_3067dup NP_009228.2:p.Ala1023ValfsTer12
NM_007299.4:c.788-1349_788-1291dup NP_009230.2:n.788-1349_788-1291dup
NM_007300.4:c.3150_3208dup NP_009231.2:p.Ala1070ValfsTer12
NR_027676.2:n.3327_3385dup