Canonical Allele Identifier: CA645373207

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 433697
• ClinVar RCV Id: RCV000500847 ; RCV000661254
• dbSNP Id: rs1555591959
• MyVariant Identifiers: chr17:g.41246235_41246238del (hg19) ; chr17:g.43094218_43094221del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094218_43094221del , CM000679.2:g.43094218_43094221del	GRCh38
NC_000017.10:g.41246235_41246238del , CM000679.1:g.41246235_41246238del	GRCh37
NC_000017.9:g.38499761_38499764del	NCBI36
NG_005905.2:g.123763_123766del , LRG_292:g.123763_123766del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.1374_1377del
ENST00000461574.2:c.1310_1313del	ENSP00000417241.2:p.His437ArgfsTer3
ENST00000470026.6:c.1310_1313del	ENSP00000419274.2:p.His437ArgfsTer3
ENST00000473961.6:c.1184_1187del	ENSP00000420201.2:p.His395ArgfsTer3
ENST00000476777.6:c.1307_1310del	ENSP00000417554.2:p.His436ArgfsTer3
ENST00000477152.6:c.1232_1235del	ENSP00000419988.2:p.His411ArgfsTer3
ENST00000478531.6:c.784+523_784+526del	ENSP00000420412.2:n.784+523_784+526del
ENST00000489037.2:c.1232_1235del	ENSP00000420781.2:p.His411ArgfsTer3
ENST00000493919.6:c.646+523_646+526del	ENSP00000418819.2:n.646+523_646+526del
ENST00000494123.6:c.1310_1313del	ENSP00000419103.2:p.His437ArgfsTer3
ENST00000497488.2:c.422_425del	ENSP00000418986.2:p.His141ArgfsTer3
ENST00000618469.2:c.1310_1313del	ENSP00000478114.2:p.His437ArgfsTer3
ENST00000634433.2:c.1187_1190del	ENSP00000489431.2:p.His396ArgfsTer3
ENST00000644379.2:c.1310_1313del	ENSP00000496570.2:p.His437ArgfsTer3
ENST00000644555.2:c.646+523_646+526del	ENSP00000494614.2:n.646+523_646+526del
ENST00000652672.2:c.1169_1172del	ENSP00000498906.2:p.His390ArgfsTer3
ENST00000484087.6:c.664+523_664+526del	ENSP00000419481.2:n.664+523_664+526del
ENST00000700182.1:c.706+523_706+526del	ENSP00000514849.1:n.706+523_706+526del
ENST00000700183.1:c.*1318_*1321del	ENSP00000514850.1:n.*1318_*1321del
ENST00000357654.9:c.1310_1313del MANE Select	ENSP00000350283.3:p.His437ArgfsTer3
ENST00000471181.7:c.1310_1313del	ENSP00000418960.2:p.His437ArgfsTer3
ENST00000652672.1:c.1169_1172del	ENSP00000498906.1:p.His390ArgfsTer3
ENST00000352993.7:c.670+1625_670+1628del	ENSP00000312236.5:n.670+1625_670+1628del
ENST00000354071.7:c.1310_1313del	ENSP00000326002.7:p.His437ArgfsTer3
ENST00000357654.7:c.1310_1313del	ENSP00000350283.3:p.His437ArgfsTer3
ENST00000412061.3:c.661_664del
ENST00000461221.5:c.*1093_*1096del	ENSP00000418548.1:n.*1093_*1096del
ENST00000468300.5:c.787+523_787+526del	ENSP00000417148.1:n.787+523_787+526del
ENST00000470026.5:c.1310_1313del	ENSP00000419274.1:p.His437ArgfsTer3
ENST00000471181.6:c.1310_1313del	ENSP00000418960.2:p.His437ArgfsTer3
ENST00000473961.5:c.907_910del
ENST00000477152.5:c.1232_1235del	ENSP00000419988.1:p.His411ArgfsTer3
ENST00000478531.5:c.784+523_784+526del	ENSP00000420412.1:n.784+523_784+526del
ENST00000484087.5:c.409+523_409+526del	ENSP00000419481.1:n.409+523_409+526del
ENST00000487825.5:c.412+523_412+526del	ENSP00000418212.1:n.412+523_412+526del
ENST00000491747.6:c.787+523_787+526del	ENSP00000420705.2:n.787+523_787+526del
ENST00000492859.5:c.*1246_*1249del	ENSP00000420253.1:n.*1246_*1249del
ENST00000493795.5:c.1169_1172del	ENSP00000418775.1:p.His390ArgfsTer3
ENST00000493919.5:c.646+523_646+526del	ENSP00000418819.1:n.646+523_646+526del
ENST00000494123.5:c.1310_1313del	ENSP00000419103.1:p.His437ArgfsTer3
ENST00000497488.1:c.422_425del	ENSP00000418986.1:p.His141ArgfsTer3
ENST00000586385.5:c.5-30270_5-30267del	ENSP00000465818.1:n.5-30270_5-30267del
ENST00000591534.5:c.-43-19700_-43-19697del	ENSP00000467329.1:n.-43-19700_-43-19697de...
ENST00000591849.5:c.-99+31050_-99+31053del	ENSP00000465347.1:n.-99+31050_-99+31053de...
ENST00000634433.1:c.1187_1190del	ENSP00000489431.1:p.His396ArgfsTer3
NM_007294.3:c.1310_1313del , LRG_292t1:c.1310_1313del	NP_009225.1:p.His437ArgfsTer3
NM_007297.3:c.1169_1172del	NP_009228.2:p.His390ArgfsTer3
NM_007298.3:c.787+523_787+526del	NP_009229.2:n.787+523_787+526del
NM_007299.3:c.787+523_787+526del	NP_009230.2:n.787+523_787+526del
NM_007300.3:c.1310_1313del	NP_009231.2:p.His437ArgfsTer3
NR_027676.1:n.1446_1449del
NM_007294.4:c.1310_1313del MANE Select	NP_009225.1:p.His437ArgfsTer3
NM_007297.4:c.1169_1172del	NP_009228.2:p.His390ArgfsTer3
NM_007299.4:c.787+523_787+526del	NP_009230.2:n.787+523_787+526del
NM_007300.4:c.1310_1313del	NP_009231.2:p.His437ArgfsTer3
NR_027676.2:n.1487_1490del