Canonical Allele Identifier: CA645373200
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 431206
dbSNP Id: rs1135401841

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094396_43094399del , CM000679.2:g.43094396_43094399del GRCh38
NC_000017.10:g.41246413_41246416del , CM000679.1:g.41246413_41246416del GRCh37
NC_000017.9:g.38499939_38499942del NCBI36
NG_005905.2:g.123585_123588del , LRG_292:g.123585_123588del

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.1196_1199del
ENST00000461574.2:c.1132_1135del ENSP00000417241.2:p.Ser378PhefsTer15
ENST00000470026.6:c.1132_1135del ENSP00000419274.2:p.Ser378PhefsTer15
ENST00000473961.6:c.1006_1009del ENSP00000420201.2:p.Ser336PhefsTer15
ENST00000476777.6:c.1129_1132del ENSP00000417554.2:p.Ser377PhefsTer15
ENST00000477152.6:c.1054_1057del ENSP00000419988.2:p.Ser352PhefsTer15
ENST00000478531.6:c.784+345_784+348del ENSP00000420412.2:n.784+345_784+348del
ENST00000489037.2:c.1054_1057del ENSP00000420781.2:p.Ser352PhefsTer15
ENST00000493919.6:c.646+345_646+348del ENSP00000418819.2:n.646+345_646+348del
ENST00000494123.6:c.1132_1135del ENSP00000419103.2:p.Ser378PhefsTer15
ENST00000497488.2:c.244_247del ENSP00000418986.2:p.Ser82PhefsTer15
ENST00000618469.2:c.1132_1135del ENSP00000478114.2:p.Ser378PhefsTer15
ENST00000634433.2:c.1009_1012del ENSP00000489431.2:p.Ser337PhefsTer15
ENST00000644379.2:c.1132_1135del ENSP00000496570.2:p.Ser378PhefsTer15
ENST00000644555.2:c.646+345_646+348del ENSP00000494614.2:n.646+345_646+348del
ENST00000652672.2:c.991_994del ENSP00000498906.2:p.Ser331PhefsTer15
ENST00000484087.6:c.664+345_664+348del ENSP00000419481.2:n.664+345_664+348del
ENST00000700182.1:c.706+345_706+348del ENSP00000514849.1:n.706+345_706+348del
ENST00000700183.1:c.*1140_*1143del ENSP00000514850.1:n.*1140_*1143del
ENST00000357654.9:c.1132_1135del MANE Select ENSP00000350283.3:p.Ser378PhefsTer15
ENST00000471181.7:c.1132_1135del ENSP00000418960.2:p.Ser378PhefsTer15
ENST00000652672.1:c.991_994del ENSP00000498906.1:p.Ser331PhefsTer15
ENST00000352993.7:c.670+1447_670+1450del ENSP00000312236.5:n.670+1447_670+1450del
ENST00000354071.7:c.1132_1135del ENSP00000326002.7:p.Ser378PhefsTer15
ENST00000357654.7:c.1132_1135del ENSP00000350283.3:p.Ser378PhefsTer15
ENST00000412061.3:c.483_486del
ENST00000461221.5:c.*915_*918del ENSP00000418548.1:n.*915_*918del
ENST00000468300.5:c.787+345_787+348del ENSP00000417148.1:n.787+345_787+348del
ENST00000470026.5:c.1132_1135del ENSP00000419274.1:p.Ser378PhefsTer15
ENST00000471181.6:c.1132_1135del ENSP00000418960.2:p.Ser378PhefsTer15
ENST00000473961.5:c.729_732del
ENST00000477152.5:c.1054_1057del ENSP00000419988.1:p.Ser352PhefsTer15
ENST00000478531.5:c.784+345_784+348del ENSP00000420412.1:n.784+345_784+348del
ENST00000484087.5:c.409+345_409+348del ENSP00000419481.1:n.409+345_409+348del
ENST00000487825.5:c.412+345_412+348del ENSP00000418212.1:n.412+345_412+348del
ENST00000491747.6:c.787+345_787+348del ENSP00000420705.2:n.787+345_787+348del
ENST00000492859.5:c.*1068_*1071del ENSP00000420253.1:n.*1068_*1071del
ENST00000493795.5:c.991_994del ENSP00000418775.1:p.Ser331PhefsTer15
ENST00000493919.5:c.646+345_646+348del ENSP00000418819.1:n.646+345_646+348del
ENST00000494123.5:c.1132_1135del ENSP00000419103.1:p.Ser378PhefsTer15
ENST00000497488.1:c.244_247del ENSP00000418986.1:p.Ser82PhefsTer15
ENST00000586385.5:c.5-30448_5-30445del ENSP00000465818.1:n.5-30448_5-30445del
ENST00000591534.5:c.-43-19878_-43-19875del ENSP00000467329.1:n.-43-19878_-43-19875de...
ENST00000591849.5:c.-99+30872_-99+30875del ENSP00000465347.1:n.-99+30872_-99+30875de...
ENST00000634433.1:c.1009_1012del ENSP00000489431.1:p.Ser337PhefsTer15
NM_007294.3:c.1132_1135del , LRG_292t1:c.1132_1135del NP_009225.1:p.Ser378PhefsTer15
NM_007297.3:c.991_994del NP_009228.2:p.Ser331PhefsTer15
NM_007298.3:c.787+345_787+348del NP_009229.2:n.787+345_787+348del
NM_007299.3:c.787+345_787+348del NP_009230.2:n.787+345_787+348del
NM_007300.3:c.1132_1135del NP_009231.2:p.Ser378PhefsTer15
NR_027676.1:n.1268_1271del
NM_007294.4:c.1132_1135del MANE Select NP_009225.1:p.Ser378PhefsTer15
NM_007297.4:c.991_994del NP_009228.2:p.Ser331PhefsTer15
NM_007299.4:c.787+345_787+348del NP_009230.2:n.787+345_787+348del
NM_007300.4:c.1132_1135del NP_009231.2:p.Ser378PhefsTer15
NR_027676.2:n.1309_1312del