Canonical Allele Identifier: CA658684119

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 495089
• ClinVar RCV Id: RCV000585669
• dbSNP Id: rs1555591984
• MyVariant Identifiers: chr17:g.41246253_41246256del (hg19) ; chr17:g.43094236_43094239del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094239_43094242del , CM000679.2:g.43094239_43094242del	GRCh38
NC_000017.10:g.41246256_41246259del , CM000679.1:g.41246256_41246259del	GRCh37
NC_000017.9:g.38499782_38499785del	NCBI36
NG_005905.2:g.123745_123748del , LRG_292:g.123745_123748del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.1356_1359del
ENST00000461574.2:c.1292_1295del	ENSP00000417241.2:p.Leu431TrpfsTer9
ENST00000470026.6:c.1292_1295del	ENSP00000419274.2:p.Leu431TrpfsTer9
ENST00000473961.6:c.1166_1169del	ENSP00000420201.2:p.Leu389TrpfsTer9
ENST00000476777.6:c.1289_1292del	ENSP00000417554.2:p.Leu430TrpfsTer9
ENST00000477152.6:c.1214_1217del	ENSP00000419988.2:p.Leu405TrpfsTer9
ENST00000478531.6:c.784+505_784+508del	ENSP00000420412.2:n.784+505_784+508del
ENST00000489037.2:c.1214_1217del	ENSP00000420781.2:p.Leu405TrpfsTer9
ENST00000493919.6:c.646+505_646+508del	ENSP00000418819.2:n.646+505_646+508del
ENST00000494123.6:c.1292_1295del	ENSP00000419103.2:p.Leu431TrpfsTer9
ENST00000497488.2:c.404_407del	ENSP00000418986.2:p.Leu135TrpfsTer9
ENST00000618469.2:c.1292_1295del	ENSP00000478114.2:p.Leu431TrpfsTer9
ENST00000634433.2:c.1169_1172del	ENSP00000489431.2:p.Leu390TrpfsTer9
ENST00000644379.2:c.1292_1295del	ENSP00000496570.2:p.Leu431TrpfsTer9
ENST00000644555.2:c.646+505_646+508del	ENSP00000494614.2:n.646+505_646+508del
ENST00000652672.2:c.1151_1154del	ENSP00000498906.2:p.Leu384TrpfsTer9
ENST00000484087.6:c.664+505_664+508del	ENSP00000419481.2:n.664+505_664+508del
ENST00000700182.1:c.706+505_706+508del	ENSP00000514849.1:n.706+505_706+508del
ENST00000700183.1:c.*1300_*1303del	ENSP00000514850.1:n.*1300_*1303del
ENST00000357654.9:c.1292_1295del MANE Select	ENSP00000350283.3:p.Leu431TrpfsTer9
ENST00000471181.7:c.1292_1295del	ENSP00000418960.2:p.Leu431TrpfsTer9
ENST00000652672.1:c.1151_1154del	ENSP00000498906.1:p.Leu384TrpfsTer9
ENST00000352993.7:c.670+1607_670+1610del	ENSP00000312236.5:n.670+1607_670+1610del
ENST00000354071.7:c.1292_1295del	ENSP00000326002.7:p.Leu431TrpfsTer9
ENST00000357654.7:c.1292_1295del	ENSP00000350283.3:p.Leu431TrpfsTer9
ENST00000412061.3:c.643_646del
ENST00000461221.5:c.*1075_*1078del	ENSP00000418548.1:n.*1075_*1078del
ENST00000468300.5:c.787+505_787+508del	ENSP00000417148.1:n.787+505_787+508del
ENST00000470026.5:c.1292_1295del	ENSP00000419274.1:p.Leu431TrpfsTer9
ENST00000471181.6:c.1292_1295del	ENSP00000418960.2:p.Leu431TrpfsTer9
ENST00000473961.5:c.889_892del
ENST00000477152.5:c.1214_1217del	ENSP00000419988.1:p.Leu405TrpfsTer9
ENST00000478531.5:c.784+505_784+508del	ENSP00000420412.1:n.784+505_784+508del
ENST00000484087.5:c.409+505_409+508del	ENSP00000419481.1:n.409+505_409+508del
ENST00000487825.5:c.412+505_412+508del	ENSP00000418212.1:n.412+505_412+508del
ENST00000491747.6:c.787+505_787+508del	ENSP00000420705.2:n.787+505_787+508del
ENST00000492859.5:c.*1228_*1231del	ENSP00000420253.1:n.*1228_*1231del
ENST00000493795.5:c.1151_1154del	ENSP00000418775.1:p.Leu384TrpfsTer9
ENST00000493919.5:c.646+505_646+508del	ENSP00000418819.1:n.646+505_646+508del
ENST00000494123.5:c.1292_1295del	ENSP00000419103.1:p.Leu431TrpfsTer9
ENST00000497488.1:c.404_407del	ENSP00000418986.1:p.Leu135TrpfsTer9
ENST00000586385.5:c.5-30288_5-30285del	ENSP00000465818.1:n.5-30288_5-30285del
ENST00000591534.5:c.-43-19718_-43-19715del	ENSP00000467329.1:n.-43-19718_-43-19715de...
ENST00000591849.5:c.-99+31032_-99+31035del	ENSP00000465347.1:n.-99+31032_-99+31035de...
ENST00000634433.1:c.1169_1172del	ENSP00000489431.1:p.Leu390TrpfsTer9
NM_007294.3:c.1292_1295del , LRG_292t1:c.1292_1295del	NP_009225.1:p.Leu431TrpfsTer9
NM_007297.3:c.1151_1154del	NP_009228.2:p.Leu384TrpfsTer9
NM_007298.3:c.787+505_787+508del	NP_009229.2:n.787+505_787+508del
NM_007299.3:c.787+505_787+508del	NP_009230.2:n.787+505_787+508del
NM_007300.3:c.1292_1295del	NP_009231.2:p.Leu431TrpfsTer9
NR_027676.1:n.1428_1431del
NM_007294.4:c.1292_1295del MANE Select	NP_009225.1:p.Leu431TrpfsTer9
NM_007297.4:c.1151_1154del	NP_009228.2:p.Leu384TrpfsTer9
NM_007299.4:c.787+505_787+508del	NP_009230.2:n.787+505_787+508del
NM_007300.4:c.1292_1295del	NP_009231.2:p.Leu431TrpfsTer9
NR_027676.2:n.1469_1472del