Canonical Allele Identifier: CA1139770865

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094198_43094237del , CM000679.2:g.43094198_43094237del	GRCh38
NC_000017.10:g.41246215_41246254del , CM000679.1:g.41246215_41246254del	GRCh37
NC_000017.9:g.38499741_38499780del	NCBI36
NG_005905.2:g.123747_123786del , LRG_292:g.123747_123786del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.1358_1397del
ENST00000461574.2:c.1294_1333del	ENSP00000417241.2:p.Leu432LysfsTer8
ENST00000470026.6:c.1294_1333del	ENSP00000419274.2:p.Leu432LysfsTer8
ENST00000473961.6:c.1168_1207del	ENSP00000420201.2:p.Leu390LysfsTer8
ENST00000476777.6:c.1291_1330del	ENSP00000417554.2:p.Leu431LysfsTer8
ENST00000477152.6:c.1216_1255del	ENSP00000419988.2:p.Leu406LysfsTer8
ENST00000478531.6:c.784+507_784+546del	ENSP00000420412.2:n.784+507_784+546del
ENST00000489037.2:c.1216_1255del	ENSP00000420781.2:p.Leu406LysfsTer8
ENST00000493919.6:c.646+507_646+546del	ENSP00000418819.2:n.646+507_646+546del
ENST00000494123.6:c.1294_1333del	ENSP00000419103.2:p.Leu432LysfsTer8
ENST00000497488.2:c.406_445del	ENSP00000418986.2:p.Leu136LysfsTer8
ENST00000618469.2:c.1294_1333del	ENSP00000478114.2:p.Leu432LysfsTer8
ENST00000634433.2:c.1171_1210del	ENSP00000489431.2:p.Leu391LysfsTer8
ENST00000644379.2:c.1294_1333del	ENSP00000496570.2:p.Leu432LysfsTer8
ENST00000644555.2:c.646+507_646+546del	ENSP00000494614.2:n.646+507_646+546del
ENST00000652672.2:c.1153_1192del	ENSP00000498906.2:p.Leu385LysfsTer8
ENST00000484087.6:c.664+507_664+546del	ENSP00000419481.2:n.664+507_664+546del
ENST00000700182.1:c.706+507_706+546del	ENSP00000514849.1:n.706+507_706+546del
ENST00000700183.1:c.*1302_*1341del	ENSP00000514850.1:n.*1302_*1341del
ENST00000357654.9:c.1294_1333del MANE Select	ENSP00000350283.3:p.Leu432LysfsTer8
ENST00000471181.7:c.1294_1333del	ENSP00000418960.2:p.Leu432LysfsTer8
ENST00000652672.1:c.1153_1192del	ENSP00000498906.1:p.Leu385LysfsTer8
ENST00000352993.7:c.670+1609_670+1648del	ENSP00000312236.5:n.670+1609_670+1648del
ENST00000354071.7:c.1294_1333del	ENSP00000326002.7:p.Leu432LysfsTer8
ENST00000357654.7:c.1294_1333del	ENSP00000350283.3:p.Leu432LysfsTer8
ENST00000412061.3:c.645_684del
ENST00000461221.5:c.*1077_*1116del	ENSP00000418548.1:n.*1077_*1116del
ENST00000468300.5:c.787+507_787+546del	ENSP00000417148.1:n.787+507_787+546del
ENST00000470026.5:c.1294_1333del	ENSP00000419274.1:p.Leu432LysfsTer8
ENST00000471181.6:c.1294_1333del	ENSP00000418960.2:p.Leu432LysfsTer8
ENST00000473961.5:c.891_930del
ENST00000477152.5:c.1216_1255del	ENSP00000419988.1:p.Leu406LysfsTer8
ENST00000478531.5:c.784+507_784+546del	ENSP00000420412.1:n.784+507_784+546del
ENST00000484087.5:c.409+507_409+546del	ENSP00000419481.1:n.409+507_409+546del
ENST00000487825.5:c.412+507_412+546del	ENSP00000418212.1:n.412+507_412+546del
ENST00000491747.6:c.787+507_787+546del	ENSP00000420705.2:n.787+507_787+546del
ENST00000492859.5:c.*1230_*1269del	ENSP00000420253.1:n.*1230_*1269del
ENST00000493795.5:c.1153_1192del	ENSP00000418775.1:p.Leu385LysfsTer8
ENST00000493919.5:c.646+507_646+546del	ENSP00000418819.1:n.646+507_646+546del
ENST00000494123.5:c.1294_1333del	ENSP00000419103.1:p.Leu432LysfsTer8
ENST00000497488.1:c.406_445del	ENSP00000418986.1:p.Leu136LysfsTer8
ENST00000586385.5:c.5-30286_5-30247del	ENSP00000465818.1:n.5-30286_5-30247del
ENST00000591534.5:c.-43-19716_-43-19677del	ENSP00000467329.1:n.-43-19716_-43-19677de...
ENST00000591849.5:c.-99+31034_-99+31073del	ENSP00000465347.1:n.-99+31034_-99+31073de...
ENST00000634433.1:c.1171_1210del	ENSP00000489431.1:p.Leu391LysfsTer8
NM_007294.3:c.1294_1333del , LRG_292t1:c.1294_1333del	NP_009225.1:p.Leu432LysfsTer8
NM_007297.3:c.1153_1192del	NP_009228.2:p.Leu385LysfsTer8
NM_007298.3:c.787+507_787+546del	NP_009229.2:n.787+507_787+546del
NM_007299.3:c.787+507_787+546del	NP_009230.2:n.787+507_787+546del
NM_007300.3:c.1294_1333del	NP_009231.2:p.Leu432LysfsTer8
NR_027676.1:n.1430_1469del
NM_007294.4:c.1294_1333del MANE Select	NP_009225.1:p.Leu432LysfsTer8
NM_007297.4:c.1153_1192del	NP_009228.2:p.Leu385LysfsTer8
NM_007299.4:c.787+507_787+546del	NP_009230.2:n.787+507_787+546del
NM_007300.4:c.1294_1333del	NP_009231.2:p.Leu432LysfsTer8
NR_027676.2:n.1471_1510del