Canonical Allele Identifier: CA2260784608

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094096_43094097delinsCA , CM000679.2:g.43094096_43094097delinsCA	GRCh38
NC_000017.10:g.41246113_41246114delinsCA , CM000679.1:g.41246113_41246114delinsCA	GRCh37
NC_000017.9:g.38499639_38499640delinsCA	NCBI36
NG_005905.2:g.123887_123888delinsTG , LRG_292:g.123887_123888delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1498_1499delinsTG
ENST00000461574.2:c.1434_1435delinsTG	ENSP00000417241.2:p.Thr478=
ENST00000470026.6:c.1434_1435delinsTG	ENSP00000419274.2:p.Thr478=
ENST00000473961.6:c.1308_1309delinsTG	ENSP00000420201.2:p.Thr436=
ENST00000476777.6:c.1431_1432delinsTG	ENSP00000417554.2:p.Thr477=
ENST00000477152.6:c.1356_1357delinsTG	ENSP00000419988.2:p.Thr452=
ENST00000478531.6:c.784+647_784+648delinsTG	ENSP00000420412.2:n.784+647_784+648delinsTG
ENST00000489037.2:c.1356_1357delinsTG	ENSP00000420781.2:p.Thr452=
ENST00000493919.6:c.646+647_646+648delinsTG	ENSP00000418819.2:n.646+647_646+648delinsTG
ENST00000494123.6:c.1434_1435delinsTG	ENSP00000419103.2:p.Thr478=
ENST00000497488.2:c.546_547delinsTG	ENSP00000418986.2:p.Thr182=
ENST00000618469.2:c.1434_1435delinsTG	ENSP00000478114.2:p.Thr478=
ENST00000634433.2:c.1311_1312delinsTG	ENSP00000489431.2:p.Thr437=
ENST00000644379.2:c.1434_1435delinsTG	ENSP00000496570.2:p.Thr478=
ENST00000644555.2:c.646+647_646+648delinsTG	ENSP00000494614.2:n.646+647_646+648delinsTG
ENST00000652672.2:c.1293_1294delinsTG	ENSP00000498906.2:p.Thr431=
ENST00000484087.6:c.664+647_664+648delinsTG	ENSP00000419481.2:n.664+647_664+648delinsTG
ENST00000700182.1:c.706+647_706+648delinsTG	ENSP00000514849.1:n.706+647_706+648delinsTG
ENST00000700183.1:c.*1442_*1443delinsTG	ENSP00000514850.1:n.*1442_*1443delinsTG
ENST00000357654.9:c.1434_1435delinsTG MANE Select	ENSP00000350283.3:p.Thr478=
ENST00000471181.7:c.1434_1435delinsTG	ENSP00000418960.2:p.Thr478=
ENST00000652672.1:c.1293_1294delinsTG	ENSP00000498906.1:p.Thr431=
ENST00000352993.7:c.670+1749_670+1750delinsTG	ENSP00000312236.5:n.670+1749_670+1750delinsTG
ENST00000354071.7:c.1434_1435delinsTG	ENSP00000326002.7:p.Thr478=
ENST00000357654.7:c.1434_1435delinsTG	ENSP00000350283.3:p.Thr478=
ENST00000412061.3:c.785_786delinsTG
ENST00000461221.5:c.*1217_*1218delinsTG	ENSP00000418548.1:n.*1217_*1218delinsTG
ENST00000468300.5:c.787+647_787+648delinsTG	ENSP00000417148.1:n.787+647_787+648delinsTG
ENST00000470026.5:c.1434_1435delinsTG	ENSP00000419274.1:p.Thr478=
ENST00000471181.6:c.1434_1435delinsTG	ENSP00000418960.2:p.Thr478=
ENST00000477152.5:c.1356_1357delinsTG	ENSP00000419988.1:p.Thr452=
ENST00000478531.5:c.784+647_784+648delinsTG	ENSP00000420412.1:n.784+647_784+648delinsTG
ENST00000484087.5:c.409+647_409+648delinsTG	ENSP00000419481.1:n.409+647_409+648delinsTG
ENST00000487825.5:c.412+647_412+648delinsTG	ENSP00000418212.1:n.412+647_412+648delinsTG
ENST00000491747.6:c.787+647_787+648delinsTG	ENSP00000420705.2:n.787+647_787+648delinsTG
ENST00000493795.5:c.1293_1294delinsTG	ENSP00000418775.1:p.Thr431=
ENST00000493919.5:c.646+647_646+648delinsTG	ENSP00000418819.1:n.646+647_646+648delinsTG
ENST00000586385.5:c.5-30146_5-30145delinsTG	ENSP00000465818.1:n.5-30146_5-30145delinsTG
ENST00000591534.5:c.-43-19576_-43-19575delinsTG	ENSP00000467329.1:n.-43-19576_-43-19575delinsTG
ENST00000591849.5:c.-99+31174_-99+31175delinsTG	ENSP00000465347.1:n.-99+31174_-99+31175delinsTG
ENST00000634433.1:c.1311_1312delinsTG	ENSP00000489431.1:p.Thr437=
NM_007294.3:c.1434_1435delinsTG , LRG_292t1:c.1434_1435delinsTG	NP_009225.1:p.Thr478=
NM_007297.3:c.1293_1294delinsTG	NP_009228.2:p.Thr431=
NM_007298.3:c.787+647_787+648delinsTG	NP_009229.2:n.787+647_787+648delinsTG
NM_007299.3:c.787+647_787+648delinsTG	NP_009230.2:n.787+647_787+648delinsTG
NM_007300.3:c.1434_1435delinsTG	NP_009231.2:p.Thr478=
NR_027676.1:n.1570_1571delinsTG
NM_007294.4:c.1434_1435delinsTG MANE Select	NP_009225.1:p.Thr478=
NM_007297.4:c.1293_1294delinsTG	NP_009228.2:p.Thr431=
NM_007299.4:c.787+647_787+648delinsTG	NP_009230.2:n.787+647_787+648delinsTG
NM_007300.4:c.1434_1435delinsTG	NP_009231.2:p.Thr478=
NR_027676.2:n.1611_1612delinsTG