Canonical Allele Identifier: CA2695226273

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094066_43094067insT , CM000679.2:g.43094066_43094067insT	GRCh38
NC_000017.10:g.41246083_41246084insT , CM000679.1:g.41246083_41246084insT	GRCh37
NC_000017.9:g.38499609_38499610insT	NCBI36
NG_005905.2:g.123917_123918insA , LRG_292:g.123917_123918insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1528_1529insA
ENST00000461574.2:c.1464_1465insA	ENSP00000417241.2:p.Glu489ArgfsTer13
ENST00000470026.6:c.1464_1465insA	ENSP00000419274.2:p.Glu489ArgfsTer13
ENST00000473961.6:c.1338_1339insA	ENSP00000420201.2:p.Glu447ArgfsTer13
ENST00000476777.6:c.1461_1462insA	ENSP00000417554.2:p.Glu488ArgfsTer13
ENST00000477152.6:c.1386_1387insA	ENSP00000419988.2:p.Glu463ArgfsTer13
ENST00000478531.6:c.784+677_784+678insA	ENSP00000420412.2:n.784+677_784+678insA
ENST00000489037.2:c.1386_1387insA	ENSP00000420781.2:p.Glu463ArgfsTer13
ENST00000493919.6:c.646+677_646+678insA	ENSP00000418819.2:n.646+677_646+678insA
ENST00000494123.6:c.1464_1465insA	ENSP00000419103.2:p.Glu489ArgfsTer13
ENST00000497488.2:c.576_577insA	ENSP00000418986.2:p.Glu193ArgfsTer13
ENST00000618469.2:c.1464_1465insA	ENSP00000478114.2:p.Glu489ArgfsTer13
ENST00000634433.2:c.1341_1342insA	ENSP00000489431.2:p.Glu448ArgfsTer13
ENST00000644379.2:c.1464_1465insA	ENSP00000496570.2:p.Glu489ArgfsTer13
ENST00000644555.2:c.646+677_646+678insA	ENSP00000494614.2:n.646+677_646+678insA
ENST00000652672.2:c.1323_1324insA	ENSP00000498906.2:p.Glu442ArgfsTer13
ENST00000484087.6:c.664+677_664+678insA	ENSP00000419481.2:n.664+677_664+678insA
ENST00000700182.1:c.706+677_706+678insA	ENSP00000514849.1:n.706+677_706+678insA
ENST00000700183.1:c.*1472_*1473insA	ENSP00000514850.1:n.*1472_*1473insA
ENST00000357654.9:c.1464_1465insA MANE Select	ENSP00000350283.3:p.Glu489ArgfsTer13
ENST00000471181.7:c.1464_1465insA	ENSP00000418960.2:p.Glu489ArgfsTer13
ENST00000652672.1:c.1323_1324insA	ENSP00000498906.1:p.Glu442ArgfsTer13
ENST00000352993.7:c.670+1779_670+1780insA	ENSP00000312236.5:n.670+1779_670+1780insA
ENST00000354071.7:c.1464_1465insA	ENSP00000326002.7:p.Glu489ArgfsTer13
ENST00000357654.7:c.1464_1465insA	ENSP00000350283.3:p.Glu489ArgfsTer13
ENST00000412061.3:c.815_816insA
ENST00000461221.5:c.*1247_*1248insA	ENSP00000418548.1:n.*1247_*1248insA
ENST00000468300.5:c.787+677_787+678insA	ENSP00000417148.1:n.787+677_787+678insA
ENST00000470026.5:c.1464_1465insA	ENSP00000419274.1:p.Glu489ArgfsTer13
ENST00000471181.6:c.1464_1465insA	ENSP00000418960.2:p.Glu489ArgfsTer13
ENST00000477152.5:c.1386_1387insA	ENSP00000419988.1:p.Glu463ArgfsTer13
ENST00000478531.5:c.784+677_784+678insA	ENSP00000420412.1:n.784+677_784+678insA
ENST00000484087.5:c.409+677_409+678insA	ENSP00000419481.1:n.409+677_409+678insA
ENST00000487825.5:c.412+677_412+678insA	ENSP00000418212.1:n.412+677_412+678insA
ENST00000491747.6:c.787+677_787+678insA	ENSP00000420705.2:n.787+677_787+678insA
ENST00000493795.5:c.1323_1324insA	ENSP00000418775.1:p.Glu442ArgfsTer13
ENST00000493919.5:c.646+677_646+678insA	ENSP00000418819.1:n.646+677_646+678insA
ENST00000586385.5:c.5-30116_5-30115insA	ENSP00000465818.1:n.5-30116_5-30115insA
ENST00000591534.5:c.-43-19546_-43-19545insA	ENSP00000467329.1:n.-43-19546_-43-19545insA
ENST00000591849.5:c.-99+31204_-99+31205insA	ENSP00000465347.1:n.-99+31204_-99+31205insA
ENST00000634433.1:c.1341_1342insA	ENSP00000489431.1:p.Glu448ArgfsTer13
NM_007294.3:c.1464_1465insA , LRG_292t1:c.1464_1465insA	NP_009225.1:p.Glu489ArgfsTer13
NM_007297.3:c.1323_1324insA	NP_009228.2:p.Glu442ArgfsTer13
NM_007298.3:c.787+677_787+678insA	NP_009229.2:n.787+677_787+678insA
NM_007299.3:c.787+677_787+678insA	NP_009230.2:n.787+677_787+678insA
NM_007300.3:c.1464_1465insA	NP_009231.2:p.Glu489ArgfsTer13
NR_027676.1:n.1600_1601insA
NM_007294.4:c.1464_1465insA MANE Select	NP_009225.1:p.Glu489ArgfsTer13
NM_007297.4:c.1323_1324insA	NP_009228.2:p.Glu442ArgfsTer13
NM_007299.4:c.787+677_787+678insA	NP_009230.2:n.787+677_787+678insA
NM_007300.4:c.1464_1465insA	NP_009231.2:p.Glu489ArgfsTer13
NR_027676.2:n.1641_1642insA