Canonical Allele Identifier: CA2499224536

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093849_43093850del , CM000679.2:g.43093849_43093850del	GRCh38
NC_000017.10:g.41245866_41245867del , CM000679.1:g.41245866_41245867del	GRCh37
NC_000017.9:g.38499392_38499393del	NCBI36
NG_005905.2:g.124135_124136del , LRG_292:g.124135_124136del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.1746_1747del
ENST00000461574.2:c.1682_1683del	ENSP00000417241.2:p.Ser561TyrfsTer4
ENST00000470026.6:c.1682_1683del	ENSP00000419274.2:p.Ser561TyrfsTer4
ENST00000473961.6:c.1556_1557del	ENSP00000420201.2:p.Ser519TyrfsTer4
ENST00000476777.6:c.1679_1680del	ENSP00000417554.2:p.Ser560TyrfsTer4
ENST00000477152.6:c.1604_1605del	ENSP00000419988.2:p.Ser535TyrfsTer4
ENST00000478531.6:c.784+895_784+896del	ENSP00000420412.2:n.784+895_784+896del
ENST00000489037.2:c.1604_1605del	ENSP00000420781.2:p.Ser535TyrfsTer4
ENST00000493919.6:c.646+895_646+896del	ENSP00000418819.2:n.646+895_646+896del
ENST00000494123.6:c.1682_1683del	ENSP00000419103.2:p.Ser561TyrfsTer4
ENST00000497488.2:c.794_795del	ENSP00000418986.2:p.Ser265TyrfsTer4
ENST00000618469.2:c.1682_1683del	ENSP00000478114.2:p.Ser561TyrfsTer4
ENST00000634433.2:c.1559_1560del	ENSP00000489431.2:p.Ser520TyrfsTer4
ENST00000644379.2:c.1682_1683del	ENSP00000496570.2:p.Ser561TyrfsTer4
ENST00000644555.2:c.646+895_646+896del	ENSP00000494614.2:n.646+895_646+896del
ENST00000652672.2:c.1541_1542del	ENSP00000498906.2:p.Ser514TyrfsTer4
ENST00000484087.6:c.664+895_664+896del	ENSP00000419481.2:n.664+895_664+896del
ENST00000700182.1:c.706+895_706+896del	ENSP00000514849.1:n.706+895_706+896del
ENST00000357654.9:c.1682_1683del MANE Select	ENSP00000350283.3:p.Ser561TyrfsTer4
ENST00000471181.7:c.1682_1683del	ENSP00000418960.2:p.Ser561TyrfsTer4
ENST00000652672.1:c.1541_1542del	ENSP00000498906.1:p.Ser514TyrfsTer4
ENST00000352993.7:c.670+1997_670+1998del	ENSP00000312236.5:n.670+1997_670+1998del
ENST00000354071.7:c.1682_1683del	ENSP00000326002.7:p.Ser561TyrfsTer4
ENST00000357654.7:c.1682_1683del	ENSP00000350283.3:p.Ser561TyrfsTer4
ENST00000412061.3:c.1033_1034del
ENST00000461221.5:c.*1465_*1466del	ENSP00000418548.1:n.*1465_*1466del
ENST00000468300.5:c.787+895_787+896del	ENSP00000417148.1:n.787+895_787+896del
ENST00000470026.5:c.1682_1683del	ENSP00000419274.1:p.Ser561TyrfsTer4
ENST00000471181.6:c.1682_1683del	ENSP00000418960.2:p.Ser561TyrfsTer4
ENST00000477152.5:c.1604_1605del	ENSP00000419988.1:p.Ser535TyrfsTer4
ENST00000478531.5:c.784+895_784+896del	ENSP00000420412.1:n.784+895_784+896del
ENST00000484087.5:c.409+895_409+896del	ENSP00000419481.1:n.409+895_409+896del
ENST00000487825.5:c.412+895_412+896del	ENSP00000418212.1:n.412+895_412+896del
ENST00000491747.6:c.787+895_787+896del	ENSP00000420705.2:n.787+895_787+896del
ENST00000493795.5:c.1541_1542del	ENSP00000418775.1:p.Ser514TyrfsTer4
ENST00000493919.5:c.646+895_646+896del	ENSP00000418819.1:n.646+895_646+896del
ENST00000586385.5:c.5-29898_5-29897del	ENSP00000465818.1:n.5-29898_5-29897del
ENST00000591534.5:c.-43-19328_-43-19327del	ENSP00000467329.1:n.-43-19328_-43-19327de...
ENST00000591849.5:c.-99+31422_-99+31423del	ENSP00000465347.1:n.-99+31422_-99+31423de...
ENST00000634433.1:c.1559_1560del	ENSP00000489431.1:p.Ser520TyrfsTer4
NM_007294.3:c.1682_1683del , LRG_292t1:c.1682_1683del	NP_009225.1:p.Ser561TyrfsTer4
NM_007297.3:c.1541_1542del	NP_009228.2:p.Ser514TyrfsTer4
NM_007298.3:c.787+895_787+896del	NP_009229.2:n.787+895_787+896del
NM_007299.3:c.787+895_787+896del	NP_009230.2:n.787+895_787+896del
NM_007300.3:c.1682_1683del	NP_009231.2:p.Ser561TyrfsTer4
NR_027676.1:n.1818_1819del
NM_007294.4:c.1682_1683del MANE Select	NP_009225.1:p.Ser561TyrfsTer4
NM_007297.4:c.1541_1542del	NP_009228.2:p.Ser514TyrfsTer4
NM_007299.4:c.787+895_787+896del	NP_009230.2:n.787+895_787+896del
NM_007300.4:c.1682_1683del	NP_009231.2:p.Ser561TyrfsTer4
NR_027676.2:n.1859_1860del