Canonical Allele Identifier: CA10589938

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266167
• ClinVar RCV Id: RCV000257108 ; RCV000496243
• dbSNP Id: rs886039952
• MyVariant Identifiers: chr17:g.41246126_41246129del (hg19) ; chr17:g.43094109_43094112del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094110_43094113del , CM000679.2:g.43094110_43094113del	GRCh38
NC_000017.10:g.41246127_41246130del , CM000679.1:g.41246127_41246130del	GRCh37
NC_000017.9:g.38499653_38499656del	NCBI36
NG_005905.2:g.123872_123875del , LRG_292:g.123872_123875del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.1483_1486del
ENST00000461574.2:c.1419_1422del	ENSP00000417241.2:p.Asn473LysfsTer4
ENST00000470026.6:c.1419_1422del	ENSP00000419274.2:p.Asn473LysfsTer4
ENST00000473961.6:c.1293_1296del	ENSP00000420201.2:p.Asn431LysfsTer4
ENST00000476777.6:c.1416_1419del	ENSP00000417554.2:p.Asn472LysfsTer4
ENST00000477152.6:c.1341_1344del	ENSP00000419988.2:p.Asn447LysfsTer4
ENST00000478531.6:c.784+632_784+635del	ENSP00000420412.2:n.784+632_784+635del
ENST00000489037.2:c.1341_1344del	ENSP00000420781.2:p.Asn447LysfsTer4
ENST00000493919.6:c.646+632_646+635del	ENSP00000418819.2:n.646+632_646+635del
ENST00000494123.6:c.1419_1422del	ENSP00000419103.2:p.Asn473LysfsTer4
ENST00000497488.2:c.531_534del	ENSP00000418986.2:p.Asn177LysfsTer4
ENST00000618469.2:c.1419_1422del	ENSP00000478114.2:p.Asn473LysfsTer4
ENST00000634433.2:c.1296_1299del	ENSP00000489431.2:p.Asn432LysfsTer4
ENST00000644379.2:c.1419_1422del	ENSP00000496570.2:p.Asn473LysfsTer4
ENST00000644555.2:c.646+632_646+635del	ENSP00000494614.2:n.646+632_646+635del
ENST00000652672.2:c.1278_1281del	ENSP00000498906.2:p.Asn426LysfsTer4
ENST00000484087.6:c.664+632_664+635del	ENSP00000419481.2:n.664+632_664+635del
ENST00000700182.1:c.706+632_706+635del	ENSP00000514849.1:n.706+632_706+635del
ENST00000700183.1:c.*1427_*1430del	ENSP00000514850.1:n.*1427_*1430del
ENST00000357654.9:c.1419_1422del MANE Select	ENSP00000350283.3:p.Asn473LysfsTer4
ENST00000471181.7:c.1419_1422del	ENSP00000418960.2:p.Asn473LysfsTer4
ENST00000652672.1:c.1278_1281del	ENSP00000498906.1:p.Asn426LysfsTer4
ENST00000352993.7:c.670+1734_670+1737del	ENSP00000312236.5:n.670+1734_670+1737del
ENST00000354071.7:c.1419_1422del	ENSP00000326002.7:p.Asn473LysfsTer4
ENST00000357654.7:c.1419_1422del	ENSP00000350283.3:p.Asn473LysfsTer4
ENST00000412061.3:c.770_773del
ENST00000461221.5:c.*1202_*1205del	ENSP00000418548.1:n.*1202_*1205del
ENST00000468300.5:c.787+632_787+635del	ENSP00000417148.1:n.787+632_787+635del
ENST00000470026.5:c.1419_1422del	ENSP00000419274.1:p.Asn473LysfsTer4
ENST00000471181.6:c.1419_1422del	ENSP00000418960.2:p.Asn473LysfsTer4
ENST00000477152.5:c.1341_1344del	ENSP00000419988.1:p.Asn447LysfsTer4
ENST00000478531.5:c.784+632_784+635del	ENSP00000420412.1:n.784+632_784+635del
ENST00000484087.5:c.409+632_409+635del	ENSP00000419481.1:n.409+632_409+635del
ENST00000487825.5:c.412+632_412+635del	ENSP00000418212.1:n.412+632_412+635del
ENST00000491747.6:c.787+632_787+635del	ENSP00000420705.2:n.787+632_787+635del
ENST00000493795.5:c.1278_1281del	ENSP00000418775.1:p.Asn426LysfsTer4
ENST00000493919.5:c.646+632_646+635del	ENSP00000418819.1:n.646+632_646+635del
ENST00000586385.5:c.5-30161_5-30158del	ENSP00000465818.1:n.5-30161_5-30158del
ENST00000591534.5:c.-43-19591_-43-19588del	ENSP00000467329.1:n.-43-19591_-43-19588de...
ENST00000591849.5:c.-99+31159_-99+31162del	ENSP00000465347.1:n.-99+31159_-99+31162de...
ENST00000634433.1:c.1296_1299del	ENSP00000489431.1:p.Asn432LysfsTer4
NM_007294.3:c.1419_1422del , LRG_292t1:c.1419_1422del	NP_009225.1:p.Asn473LysfsTer4
NM_007297.3:c.1278_1281del	NP_009228.2:p.Asn426LysfsTer4
NM_007298.3:c.787+632_787+635del	NP_009229.2:n.787+632_787+635del
NM_007299.3:c.787+632_787+635del	NP_009230.2:n.787+632_787+635del
NM_007300.3:c.1419_1422del	NP_009231.2:p.Asn473LysfsTer4
NR_027676.1:n.1555_1558del
NM_007294.4:c.1419_1422del MANE Select	NP_009225.1:p.Asn473LysfsTer4
NM_007297.4:c.1278_1281del	NP_009228.2:p.Asn426LysfsTer4
NM_007299.4:c.787+632_787+635del	NP_009230.2:n.787+632_787+635del
NM_007300.4:c.1419_1422del	NP_009231.2:p.Asn473LysfsTer4
NR_027676.2:n.1596_1599del