Canonical Allele Identifier: CA10589778
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 266341
dbSNP Id: rs886040102

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092327_43092330del , CM000679.2:g.43092327_43092330del GRCh38
NC_000017.10:g.41244344_41244347del , CM000679.1:g.41244344_41244347del GRCh37
NC_000017.9:g.38497870_38497873del NCBI36
NG_005905.2:g.125656_125659del , LRG_292:g.125656_125659del

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.3267_3270del
ENST00000461574.2:c.3203_3206del ENSP00000417241.2:p.Ile1068LysfsTer4
ENST00000470026.6:c.3203_3206del ENSP00000419274.2:p.Ile1068LysfsTer4
ENST00000473961.6:c.3077_3080del ENSP00000420201.2:p.Ile1026LysfsTer4
ENST00000476777.6:c.3200_3203del ENSP00000417554.2:p.Ile1067LysfsTer4
ENST00000477152.6:c.3125_3128del ENSP00000419988.2:p.Ile1042LysfsTer4
ENST00000478531.6:c.785-1296_785-1293del ENSP00000420412.2:n.785-1296_785-1293del
ENST00000489037.2:c.3125_3128del ENSP00000420781.2:p.Ile1042LysfsTer4
ENST00000493919.6:c.647-1296_647-1293del ENSP00000418819.2:n.647-1296_647-1293del
ENST00000494123.6:c.3203_3206del ENSP00000419103.2:p.Ile1068LysfsTer4
ENST00000497488.2:c.2315_2318del ENSP00000418986.2:p.Ile772LysfsTer4
ENST00000618469.2:c.3203_3206del ENSP00000478114.2:p.Ile1068LysfsTer4
ENST00000634433.2:c.3080_3083del ENSP00000489431.2:p.Ile1027LysfsTer4
ENST00000644379.2:c.3203_3206del ENSP00000496570.2:p.Ile1068LysfsTer4
ENST00000644555.2:c.647-1296_647-1293del ENSP00000494614.2:n.647-1296_647-1293del
ENST00000652672.2:c.3062_3065del ENSP00000498906.2:p.Ile1021LysfsTer4
ENST00000484087.6:c.665-1296_665-1293del ENSP00000419481.2:n.665-1296_665-1293del
ENST00000700182.1:c.707-1296_707-1293del ENSP00000514849.1:n.707-1296_707-1293del
ENST00000357654.9:c.3203_3206del MANE Select ENSP00000350283.3:p.Ile1068LysfsTer4
ENST00000471181.7:c.3203_3206del ENSP00000418960.2:p.Ile1068LysfsTer4
ENST00000352993.7:c.671-1296_671-1293del ENSP00000312236.5:n.671-1296_671-1293del
ENST00000354071.7:c.3203_3206del ENSP00000326002.7:p.Ile1068LysfsTer4
ENST00000357654.7:c.3203_3206del ENSP00000350283.3:p.Ile1068LysfsTer4
ENST00000461221.5:c.*2986_*2989del ENSP00000418548.1:n.*2986_*2989del
ENST00000468300.5:c.788-1296_788-1293del ENSP00000417148.1:n.788-1296_788-1293del
ENST00000471181.6:c.3203_3206del ENSP00000418960.2:p.Ile1068LysfsTer4
ENST00000478531.5:c.785-1296_785-1293del ENSP00000420412.1:n.785-1296_785-1293del
ENST00000484087.5:c.410-1296_410-1293del ENSP00000419481.1:n.410-1296_410-1293del
ENST00000487825.5:c.413-1296_413-1293del ENSP00000418212.1:n.413-1296_413-1293del
ENST00000491747.6:c.788-1296_788-1293del ENSP00000420705.2:n.788-1296_788-1293del
ENST00000493795.5:c.3062_3065del ENSP00000418775.1:p.Ile1021LysfsTer4
ENST00000493919.5:c.647-1296_647-1293del ENSP00000418819.1:n.647-1296_647-1293del
ENST00000586385.5:c.5-28377_5-28374del ENSP00000465818.1:n.5-28377_5-28374del
ENST00000591534.5:c.-43-17807_-43-17804del ENSP00000467329.1:n.-43-17807_-43-17804del
ENST00000591849.5:c.-99+32943_-99+32946del ENSP00000465347.1:n.-99+32943_-99+32946del
NM_007294.3:c.3203_3206del , LRG_292t1:c.3203_3206del NP_009225.1:p.Ile1068LysfsTer4
NM_007297.3:c.3062_3065del NP_009228.2:p.Ile1021LysfsTer4
NM_007298.3:c.788-1296_788-1293del NP_009229.2:n.788-1296_788-1293del
NM_007299.3:c.788-1296_788-1293del NP_009230.2:n.788-1296_788-1293del
NM_007300.3:c.3203_3206del NP_009231.2:p.Ile1068LysfsTer4
NR_027676.1:n.3339_3342del
NM_007294.4:c.3203_3206del MANE Select NP_009225.1:p.Ile1068LysfsTer4
NM_007297.4:c.3062_3065del NP_009228.2:p.Ile1021LysfsTer4
NM_007299.4:c.788-1296_788-1293del NP_009230.2:n.788-1296_788-1293del
NM_007300.4:c.3203_3206del NP_009231.2:p.Ile1068LysfsTer4
NR_027676.2:n.3380_3383del