Canonical Allele Identifier: CA2573105992
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1174015
ClinVar RCV Id: RCV001527481
dbSNP Id: rs2154471163

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094337_43094338del , CM000679.2:g.43094337_43094338del GRCh38
NC_000017.10:g.41246354_41246355del , CM000679.1:g.41246354_41246355del GRCh37
NC_000017.9:g.38499880_38499881del NCBI36
NG_005905.2:g.123648_123649del , LRG_292:g.123648_123649del

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.1259_1260del
ENST00000461574.2:c.1195_1196del ENSP00000417241.2:p.His399Ter
ENST00000470026.6:c.1195_1196del ENSP00000419274.2:p.His399Ter
ENST00000473961.6:c.1069_1070del ENSP00000420201.2:p.His357Ter
ENST00000476777.6:c.1192_1193del ENSP00000417554.2:p.His398Ter
ENST00000477152.6:c.1117_1118del ENSP00000419988.2:p.His373Ter
ENST00000478531.6:c.784+408_784+409del ENSP00000420412.2:n.784+408_784+409del
ENST00000489037.2:c.1117_1118del ENSP00000420781.2:p.His373Ter
ENST00000493919.6:c.646+408_646+409del ENSP00000418819.2:n.646+408_646+409del
ENST00000494123.6:c.1195_1196del ENSP00000419103.2:p.His399Ter
ENST00000497488.2:c.307_308del ENSP00000418986.2:p.His103Ter
ENST00000618469.2:c.1195_1196del ENSP00000478114.2:p.His399Ter
ENST00000634433.2:c.1072_1073del ENSP00000489431.2:p.His358Ter
ENST00000644379.2:c.1195_1196del ENSP00000496570.2:p.His399Ter
ENST00000644555.2:c.646+408_646+409del ENSP00000494614.2:n.646+408_646+409del
ENST00000652672.2:c.1054_1055del ENSP00000498906.2:p.His352Ter
ENST00000484087.6:c.664+408_664+409del ENSP00000419481.2:n.664+408_664+409del
ENST00000700182.1:c.706+408_706+409del ENSP00000514849.1:n.706+408_706+409del
ENST00000700183.1:c.*1203_*1204del ENSP00000514850.1:n.*1203_*1204del
ENST00000357654.9:c.1195_1196del MANE Select ENSP00000350283.3:p.His399Ter
ENST00000471181.7:c.1195_1196del ENSP00000418960.2:p.His399Ter
ENST00000652672.1:c.1054_1055del ENSP00000498906.1:p.His352Ter
ENST00000352993.7:c.670+1510_670+1511del ENSP00000312236.5:n.670+1510_670+1511del
ENST00000354071.7:c.1195_1196del ENSP00000326002.7:p.His399Ter
ENST00000357654.7:c.1195_1196del ENSP00000350283.3:p.His399Ter
ENST00000412061.3:c.546_547del
ENST00000461221.5:c.*978_*979del ENSP00000418548.1:n.*978_*979del
ENST00000468300.5:c.787+408_787+409del ENSP00000417148.1:n.787+408_787+409del
ENST00000470026.5:c.1195_1196del ENSP00000419274.1:p.His399Ter
ENST00000471181.6:c.1195_1196del ENSP00000418960.2:p.His399Ter
ENST00000473961.5:c.792_793del
ENST00000477152.5:c.1117_1118del ENSP00000419988.1:p.His373Ter
ENST00000478531.5:c.784+408_784+409del ENSP00000420412.1:n.784+408_784+409del
ENST00000484087.5:c.409+408_409+409del ENSP00000419481.1:n.409+408_409+409del
ENST00000487825.5:c.412+408_412+409del ENSP00000418212.1:n.412+408_412+409del
ENST00000491747.6:c.787+408_787+409del ENSP00000420705.2:n.787+408_787+409del
ENST00000492859.5:c.*1131_*1132del ENSP00000420253.1:n.*1131_*1132del
ENST00000493795.5:c.1054_1055del ENSP00000418775.1:p.His352Ter
ENST00000493919.5:c.646+408_646+409del ENSP00000418819.1:n.646+408_646+409del
ENST00000494123.5:c.1195_1196del ENSP00000419103.1:p.His399Ter
ENST00000497488.1:c.307_308del ENSP00000418986.1:p.His103Ter
ENST00000586385.5:c.5-30385_5-30384del ENSP00000465818.1:n.5-30385_5-30384del
ENST00000591534.5:c.-43-19815_-43-19814del ENSP00000467329.1:n.-43-19815_-43-19814del
ENST00000591849.5:c.-99+30935_-99+30936del ENSP00000465347.1:n.-99+30935_-99+30936del
ENST00000634433.1:c.1072_1073del ENSP00000489431.1:p.His358Ter
NM_007294.3:c.1195_1196del , LRG_292t1:c.1195_1196del NP_009225.1:p.His399Ter
NM_007297.3:c.1054_1055del NP_009228.2:p.His352Ter
NM_007298.3:c.787+408_787+409del NP_009229.2:n.787+408_787+409del
NM_007299.3:c.787+408_787+409del NP_009230.2:n.787+408_787+409del
NM_007300.3:c.1195_1196del NP_009231.2:p.His399Ter
NR_027676.1:n.1331_1332del
NM_007294.4:c.1195_1196del MANE Select NP_009225.1:p.His399Ter
NM_007297.4:c.1054_1055del NP_009228.2:p.His352Ter
NM_007299.4:c.787+408_787+409del NP_009230.2:n.787+408_787+409del
NM_007300.4:c.1195_1196del NP_009231.2:p.His399Ter
NR_027676.2:n.1372_1373del