Canonical Allele Identifier: CA356572
Community Standard Title: NM_007294.4(BRCA1):c.1039_1040del (p.Leu347ValfsTer2)
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094491_43094492del , CM000679.2:g.43094491_43094492del GRCh38
NC_000017.10:g.41246508_41246509del , CM000679.1:g.41246508_41246509del GRCh37
NC_000017.9:g.38500034_38500035del NCBI36
NG_005905.2:g.123492_123493del , LRG_292:g.123492_123493del

Transcript Alleles

HGVS Amino-acid Change
NM_007294.4:c.1039_1040del MANE Select NP_009225.1:p.Leu347ValfsTer2
ENST00000357654.9:c.1039_1040del MANE Select ENSP00000350283.3:p.Leu347ValfsTer2
NM_007294.3:c.1039_1040del , LRG_292t1:c.1039_1040del NP_009225.1:p.Leu347ValfsTer2
NM_007297.3:c.898_899del NP_009228.2:p.Leu300ValfsTer2
NM_007297.4:c.898_899del NP_009228.2:p.Leu300ValfsTer2
NM_007298.3:c.787+252_787+253del NP_009229.2:n.787+252_787+253del
NM_007299.3:c.787+252_787+253del NP_009230.2:n.787+252_787+253del
NM_007299.4:c.787+252_787+253del NP_009230.2:n.787+252_787+253del
NM_007300.3:c.1039_1040del NP_009231.2:p.Leu347ValfsTer2
NM_007300.4:c.1039_1040del NP_009231.2:p.Leu347ValfsTer2
NR_027676.1:n.1175_1176del
NR_027676.2:n.1216_1217del
ENST00000352993.7:c.670+1354_670+1355del ENSP00000312236.5:n.670+1354_670+1355del
ENST00000354071.7:c.1039_1040del ENSP00000326002.7:p.Leu347ValfsTer2
ENST00000354071.8:n.1103_1104del
ENST00000357654.7:c.1039_1040del ENSP00000350283.3:p.Leu347ValfsTer2
ENST00000412061.3:c.390_391del
ENST00000461221.5:c.*822_*823del ENSP00000418548.1:n.*822_*823del
ENST00000461574.2:c.1039_1040del ENSP00000417241.2:p.Leu347ValfsTer2
ENST00000468300.5:c.787+252_787+253del ENSP00000417148.1:n.787+252_787+253del
ENST00000470026.5:c.1039_1040del ENSP00000419274.1:p.Leu347ValfsTer2
ENST00000470026.6:c.1039_1040del ENSP00000419274.2:p.Leu347ValfsTer2
ENST00000471181.6:c.1039_1040del ENSP00000418960.2:p.Leu347ValfsTer2
ENST00000471181.7:c.1039_1040del ENSP00000418960.2:p.Leu347ValfsTer2
ENST00000473961.5:c.636_637del
ENST00000473961.6:c.913_914del ENSP00000420201.2:p.Leu305ValfsTer2
ENST00000476777.6:c.1036_1037del ENSP00000417554.2:p.Leu346ValfsTer2
ENST00000477152.5:c.961_962del ENSP00000419988.1:p.Leu321ValfsTer2
ENST00000477152.6:c.961_962del ENSP00000419988.2:p.Leu321ValfsTer2
ENST00000478531.5:c.784+252_784+253del ENSP00000420412.1:n.784+252_784+253del
ENST00000478531.6:c.784+252_784+253del ENSP00000420412.2:n.784+252_784+253del
ENST00000484087.5:c.409+252_409+253del ENSP00000419481.1:n.409+252_409+253del
ENST00000484087.6:c.664+252_664+253del ENSP00000419481.2:n.664+252_664+253del
ENST00000487825.5:c.412+252_412+253del ENSP00000418212.1:n.412+252_412+253del
ENST00000489037.2:c.961_962del ENSP00000420781.2:p.Leu321ValfsTer2
ENST00000491747.6:c.787+252_787+253del ENSP00000420705.2:n.787+252_787+253del
ENST00000492859.5:c.*975_*976del ENSP00000420253.1:n.*975_*976del
ENST00000493795.5:c.898_899del ENSP00000418775.1:p.Leu300ValfsTer2
ENST00000493919.5:c.646+252_646+253del ENSP00000418819.1:n.646+252_646+253del
ENST00000493919.6:c.646+252_646+253del ENSP00000418819.2:n.646+252_646+253del
ENST00000494123.5:c.1039_1040del ENSP00000419103.1:p.Leu347ValfsTer2
ENST00000494123.6:c.1039_1040del ENSP00000419103.2:p.Leu347ValfsTer2
ENST00000497488.1:c.151_152del ENSP00000418986.1:p.Leu51ValfsTer2
ENST00000497488.2:c.151_152del ENSP00000418986.2:p.Leu51ValfsTer2
ENST00000586385.5:c.5-30541_5-30540del ENSP00000465818.1:n.5-30541_5-30540del
ENST00000591534.5:c.-43-19971_-43-19970del ENSP00000467329.1:n.-43-19971_-43-19970del
ENST00000591849.5:c.-99+30779_-99+30780del ENSP00000465347.1:n.-99+30779_-99+30780del
ENST00000618469.2:c.1039_1040del ENSP00000478114.2:p.Leu347ValfsTer2
ENST00000634433.1:c.916_917del ENSP00000489431.1:p.Leu306ValfsTer2
ENST00000634433.2:c.916_917del ENSP00000489431.2:p.Leu306ValfsTer2
ENST00000642945.1:c.*913_*914del ENSP00000495897.1:n.*913_*914del
ENST00000644379.2:c.1039_1040del ENSP00000496570.2:p.Leu347ValfsTer2
ENST00000644555.2:c.646+252_646+253del ENSP00000494614.2:n.646+252_646+253del
ENST00000652672.1:c.898_899del ENSP00000498906.1:p.Leu300ValfsTer2
ENST00000652672.2:c.898_899del ENSP00000498906.2:p.Leu300ValfsTer2
ENST00000700182.1:c.706+252_706+253del ENSP00000514849.1:n.706+252_706+253del
ENST00000700183.1:c.*1047_*1048del ENSP00000514850.1:n.*1047_*1048del