Canonical Allele Identifier: CA003967
Gene: BRCA1 HGNC NCBI
BRCA Exchange:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094607del , CM000679.2:g.43094607del GRCh38
NC_000017.10:g.41246624del , CM000679.1:g.41246624del GRCh37
NC_000017.9:g.38500150del NCBI36
NG_005905.2:g.123377del , LRG_292:g.123377del

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.988del
ENST00000461574.2:c.924del ENSP00000417241.2:p.Ser308ArgfsTer6
ENST00000470026.6:c.924del ENSP00000419274.2:p.Ser308ArgfsTer6
ENST00000473961.6:c.798del ENSP00000420201.2:p.Ser266ArgfsTer6
ENST00000476777.6:c.921del ENSP00000417554.2:p.Ser307ArgfsTer6
ENST00000477152.6:c.846del ENSP00000419988.2:p.Ser282ArgfsTer6
ENST00000478531.6:c.784+137del ENSP00000420412.2:n.784+137del
ENST00000489037.2:c.846del ENSP00000420781.2:p.Ser282ArgfsTer6
ENST00000493919.6:c.646+137del ENSP00000418819.2:n.646+137del
ENST00000494123.6:c.924del ENSP00000419103.2:p.Ser308ArgfsTer6
ENST00000497488.2:c.36del ENSP00000418986.2:p.Ser12ArgfsTer6
ENST00000618469.2:c.924del ENSP00000478114.2:p.Ser308ArgfsTer6
ENST00000634433.2:c.801del ENSP00000489431.2:p.Ser267ArgfsTer6
ENST00000644379.2:c.924del ENSP00000496570.2:p.Ser308ArgfsTer6
ENST00000644555.2:c.646+137del ENSP00000494614.2:n.646+137del
ENST00000652672.2:c.783del ENSP00000498906.2:p.Ser261ArgfsTer6
ENST00000484087.6:c.664+137del ENSP00000419481.2:n.664+137del
ENST00000700182.1:c.706+137del ENSP00000514849.1:n.706+137del
ENST00000700183.1:c.*932del ENSP00000514850.1:n.*932del
ENST00000357654.9:c.924del MANE Select ENSP00000350283.3:p.Ser308ArgfsTer6
ENST00000471181.7:c.924del ENSP00000418960.2:p.Ser308ArgfsTer6
ENST00000642945.1:c.*798del ENSP00000495897.1:n.*798del
ENST00000652672.1:c.783del ENSP00000498906.1:p.Ser261ArgfsTer6
ENST00000352993.7:c.670+1239del ENSP00000312236.5:n.670+1239del
ENST00000354071.7:c.924del ENSP00000326002.7:p.Ser308ArgfsTer6
ENST00000357654.7:c.924del ENSP00000350283.3:p.Ser308ArgfsTer6
ENST00000412061.3:c.275del
ENST00000461221.5:c.*707del ENSP00000418548.1:n.*707del
ENST00000468300.5:c.787+137del ENSP00000417148.1:n.787+137del
ENST00000470026.5:c.924del ENSP00000419274.1:p.Ser308ArgfsTer6
ENST00000471181.6:c.924del ENSP00000418960.2:p.Ser308ArgfsTer6
ENST00000473961.5:c.521del
ENST00000477152.5:c.846del ENSP00000419988.1:p.Ser282ArgfsTer6
ENST00000478531.5:c.784+137del ENSP00000420412.1:n.784+137del
ENST00000484087.5:c.409+137del ENSP00000419481.1:n.409+137del
ENST00000487825.5:c.412+137del ENSP00000418212.1:n.412+137del
ENST00000491747.6:c.787+137del ENSP00000420705.2:n.787+137del
ENST00000492859.5:c.*860del ENSP00000420253.1:n.*860del
ENST00000493795.5:c.783del ENSP00000418775.1:p.Ser261ArgfsTer6
ENST00000493919.5:c.646+137del ENSP00000418819.1:n.646+137del
ENST00000494123.5:c.924del ENSP00000419103.1:p.Ser308ArgfsTer6
ENST00000497488.1:c.36del ENSP00000418986.1:p.Ser12ArgfsTer6
ENST00000586385.5:c.4+30575del ENSP00000465818.1:n.4+30575del
ENST00000591534.5:c.-43-20086del ENSP00000467329.1:n.-43-20086del
ENST00000591849.5:c.-99+30664del ENSP00000465347.1:n.-99+30664del
ENST00000634433.1:c.801del ENSP00000489431.1:p.Ser267ArgfsTer6
NM_007294.3:c.924del , LRG_292t1:c.924del NP_009225.1:p.Ser308ArgfsTer6
NM_007297.3:c.783del NP_009228.2:p.Ser261ArgfsTer6
NM_007298.3:c.787+137del NP_009229.2:n.787+137del
NM_007299.3:c.787+137del NP_009230.2:n.787+137del
NM_007300.3:c.924del NP_009231.2:p.Ser308ArgfsTer6
NR_027676.1:n.1060del
NM_007294.4:c.924del MANE Select NP_009225.1:p.Ser308ArgfsTer6
NM_007297.4:c.783del NP_009228.2:p.Ser261ArgfsTer6
NM_007299.4:c.787+137del NP_009230.2:n.787+137del
NM_007300.4:c.924del NP_009231.2:p.Ser308ArgfsTer6
NR_027676.2:n.1101del