Canonical Allele Identifier: CA000928

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 54235
• ClinVar RCV Id: RCV000496409 ; RCV000776207 ; RCV003315577 ; RCV001355685
• dbSNP Id: rs397508867
• MyVariant Identifiers: chr17:g.41246157_41246158insC (hg19) ; chr17:g.43094140_43094141insC (hg38)
• PubMed: PMID:17148771

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094140_43094141insC , CM000679.2:g.43094140_43094141insC	GRCh38
NC_000017.10:g.41246157_41246158insC , CM000679.1:g.41246157_41246158insC	GRCh37
NC_000017.9:g.38499683_38499684insC	NCBI36
NG_005905.2:g.123843_123844insG , LRG_292:g.123843_123844insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1454_1455insG
ENST00000461574.2:c.1390_1391insG	ENSP00000417241.2:p.Thr464SerfsTer16
ENST00000470026.6:c.1390_1391insG	ENSP00000419274.2:p.Thr464SerfsTer16
ENST00000473961.6:c.1264_1265insG	ENSP00000420201.2:p.Thr422SerfsTer16
ENST00000476777.6:c.1387_1388insG	ENSP00000417554.2:p.Thr463SerfsTer16
ENST00000477152.6:c.1312_1313insG	ENSP00000419988.2:p.Thr438SerfsTer16
ENST00000478531.6:c.784+603_784+604insG	ENSP00000420412.2:n.784+603_784+604insG
ENST00000489037.2:c.1312_1313insG	ENSP00000420781.2:p.Thr438SerfsTer16
ENST00000493919.6:c.646+603_646+604insG	ENSP00000418819.2:n.646+603_646+604insG
ENST00000494123.6:c.1390_1391insG	ENSP00000419103.2:p.Thr464SerfsTer16
ENST00000497488.2:c.502_503insG	ENSP00000418986.2:p.Thr168SerfsTer16
ENST00000618469.2:c.1390_1391insG	ENSP00000478114.2:p.Thr464SerfsTer16
ENST00000634433.2:c.1267_1268insG	ENSP00000489431.2:p.Thr423SerfsTer16
ENST00000644379.2:c.1390_1391insG	ENSP00000496570.2:p.Thr464SerfsTer16
ENST00000644555.2:c.646+603_646+604insG	ENSP00000494614.2:n.646+603_646+604insG
ENST00000652672.2:c.1249_1250insG	ENSP00000498906.2:p.Thr417SerfsTer16
ENST00000484087.6:c.664+603_664+604insG	ENSP00000419481.2:n.664+603_664+604insG
ENST00000700182.1:c.706+603_706+604insG	ENSP00000514849.1:n.706+603_706+604insG
ENST00000700183.1:c.*1398_*1399insG	ENSP00000514850.1:n.*1398_*1399insG
ENST00000357654.9:c.1390_1391insG MANE Select	ENSP00000350283.3:p.Thr464SerfsTer16
ENST00000471181.7:c.1390_1391insG	ENSP00000418960.2:p.Thr464SerfsTer16
ENST00000652672.1:c.1249_1250insG	ENSP00000498906.1:p.Thr417SerfsTer16
ENST00000352993.7:c.670+1705_670+1706insG	ENSP00000312236.5:n.670+1705_670+1706insG
ENST00000354071.7:c.1390_1391insG	ENSP00000326002.7:p.Thr464SerfsTer16
ENST00000357654.7:c.1390_1391insG	ENSP00000350283.3:p.Thr464SerfsTer16
ENST00000412061.3:c.741_742insG
ENST00000461221.5:c.*1173_*1174insG	ENSP00000418548.1:n.*1173_*1174insG
ENST00000468300.5:c.787+603_787+604insG	ENSP00000417148.1:n.787+603_787+604insG
ENST00000470026.5:c.1390_1391insG	ENSP00000419274.1:p.Thr464SerfsTer16
ENST00000471181.6:c.1390_1391insG	ENSP00000418960.2:p.Thr464SerfsTer16
ENST00000477152.5:c.1312_1313insG	ENSP00000419988.1:p.Thr438SerfsTer16
ENST00000478531.5:c.784+603_784+604insG	ENSP00000420412.1:n.784+603_784+604insG
ENST00000484087.5:c.409+603_409+604insG	ENSP00000419481.1:n.409+603_409+604insG
ENST00000487825.5:c.412+603_412+604insG	ENSP00000418212.1:n.412+603_412+604insG
ENST00000491747.6:c.787+603_787+604insG	ENSP00000420705.2:n.787+603_787+604insG
ENST00000492859.5:c.*1326_*1327insG	ENSP00000420253.1:n.*1326_*1327insG
ENST00000493795.5:c.1249_1250insG	ENSP00000418775.1:p.Thr417SerfsTer16
ENST00000493919.5:c.646+603_646+604insG	ENSP00000418819.1:n.646+603_646+604insG
ENST00000494123.5:c.1390_1391insG	ENSP00000419103.1:p.Thr464SerfsTer?
ENST00000497488.1:c.502_503insG	ENSP00000418986.1:p.Thr168SerfsTer?
ENST00000586385.5:c.5-30190_5-30189insG	ENSP00000465818.1:n.5-30190_5-30189insG
ENST00000591534.5:c.-43-19620_-43-19619insG	ENSP00000467329.1:n.-43-19620_-43-19619insG
ENST00000591849.5:c.-99+31130_-99+31131insG	ENSP00000465347.1:n.-99+31130_-99+31131insG
ENST00000634433.1:c.1267_1268insG	ENSP00000489431.1:p.Thr423SerfsTer16
NM_007294.3:c.1390_1391insG , LRG_292t1:c.1390_1391insG	NP_009225.1:p.Thr464SerfsTer16
NM_007297.3:c.1249_1250insG	NP_009228.2:p.Thr417SerfsTer16
NM_007298.3:c.787+603_787+604insG	NP_009229.2:n.787+603_787+604insG
NM_007299.3:c.787+603_787+604insG	NP_009230.2:n.787+603_787+604insG
NM_007300.3:c.1390_1391insG	NP_009231.2:p.Thr464SerfsTer16
NR_027676.1:n.1526_1527insG
NM_007294.4:c.1390_1391insG MANE Select	NP_009225.1:p.Thr464SerfsTer16
NM_007297.4:c.1249_1250insG	NP_009228.2:p.Thr417SerfsTer16
NM_007299.4:c.787+603_787+604insG	NP_009230.2:n.787+603_787+604insG
NM_007300.4:c.1390_1391insG	NP_009231.2:p.Thr464SerfsTer16
NR_027676.2:n.1567_1568insG