Canonical Allele Identifier: CA658824545

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 545868
• ClinVar RCV Id: RCV000657457 ; RCV002440402
• dbSNP Id: rs1555592671
• MyVariant Identifiers: chr17:g.41246538_41246539del (hg19) ; chr17:g.43094521_43094522del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094522_43094523del , CM000679.2:g.43094522_43094523del	GRCh38
NC_000017.10:g.41246539_41246540del , CM000679.1:g.41246539_41246540del	GRCh37
NC_000017.9:g.38500065_38500066del	NCBI36
NG_005905.2:g.123462_123463del , LRG_292:g.123462_123463del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.1073_1074del
ENST00000461574.2:c.1009_1010del	ENSP00000417241.2:p.Glu337LysfsTer8
ENST00000470026.6:c.1009_1010del	ENSP00000419274.2:p.Glu337LysfsTer8
ENST00000473961.6:c.883_884del	ENSP00000420201.2:p.Glu295LysfsTer8
ENST00000476777.6:c.1006_1007del	ENSP00000417554.2:p.Glu336LysfsTer8
ENST00000477152.6:c.931_932del	ENSP00000419988.2:p.Glu311LysfsTer8
ENST00000478531.6:c.784+222_784+223del	ENSP00000420412.2:n.784+222_784+223del
ENST00000489037.2:c.931_932del	ENSP00000420781.2:p.Glu311LysfsTer8
ENST00000493919.6:c.646+222_646+223del	ENSP00000418819.2:n.646+222_646+223del
ENST00000494123.6:c.1009_1010del	ENSP00000419103.2:p.Glu337LysfsTer8
ENST00000497488.2:c.121_122del	ENSP00000418986.2:p.Glu41LysfsTer8
ENST00000618469.2:c.1009_1010del	ENSP00000478114.2:p.Glu337LysfsTer8
ENST00000634433.2:c.886_887del	ENSP00000489431.2:p.Glu296LysfsTer8
ENST00000644379.2:c.1009_1010del	ENSP00000496570.2:p.Glu337LysfsTer8
ENST00000644555.2:c.646+222_646+223del	ENSP00000494614.2:n.646+222_646+223del
ENST00000652672.2:c.868_869del	ENSP00000498906.2:p.Glu290LysfsTer8
ENST00000484087.6:c.664+222_664+223del	ENSP00000419481.2:n.664+222_664+223del
ENST00000700182.1:c.706+222_706+223del	ENSP00000514849.1:n.706+222_706+223del
ENST00000700183.1:c.*1017_*1018del	ENSP00000514850.1:n.*1017_*1018del
ENST00000357654.9:c.1009_1010del MANE Select	ENSP00000350283.3:p.Glu337LysfsTer8
ENST00000471181.7:c.1009_1010del	ENSP00000418960.2:p.Glu337LysfsTer8
ENST00000642945.1:c.*883_*884del	ENSP00000495897.1:n.*883_*884del
ENST00000652672.1:c.868_869del	ENSP00000498906.1:p.Glu290LysfsTer8
ENST00000352993.7:c.670+1324_670+1325del	ENSP00000312236.5:n.670+1324_670+1325del
ENST00000354071.7:c.1009_1010del	ENSP00000326002.7:p.Glu337LysfsTer8
ENST00000357654.7:c.1009_1010del	ENSP00000350283.3:p.Glu337LysfsTer8
ENST00000412061.3:c.360_361del
ENST00000461221.5:c.*792_*793del	ENSP00000418548.1:n.*792_*793del
ENST00000468300.5:c.787+222_787+223del	ENSP00000417148.1:n.787+222_787+223del
ENST00000470026.5:c.1009_1010del	ENSP00000419274.1:p.Glu337LysfsTer8
ENST00000471181.6:c.1009_1010del	ENSP00000418960.2:p.Glu337LysfsTer8
ENST00000473961.5:c.606_607del
ENST00000477152.5:c.931_932del	ENSP00000419988.1:p.Glu311LysfsTer8
ENST00000478531.5:c.784+222_784+223del	ENSP00000420412.1:n.784+222_784+223del
ENST00000484087.5:c.409+222_409+223del	ENSP00000419481.1:n.409+222_409+223del
ENST00000487825.5:c.412+222_412+223del	ENSP00000418212.1:n.412+222_412+223del
ENST00000491747.6:c.787+222_787+223del	ENSP00000420705.2:n.787+222_787+223del
ENST00000492859.5:c.*945_*946del	ENSP00000420253.1:n.*945_*946del
ENST00000493795.5:c.868_869del	ENSP00000418775.1:p.Glu290LysfsTer8
ENST00000493919.5:c.646+222_646+223del	ENSP00000418819.1:n.646+222_646+223del
ENST00000494123.5:c.1009_1010del	ENSP00000419103.1:p.Glu337LysfsTer8
ENST00000497488.1:c.121_122del	ENSP00000418986.1:p.Glu41LysfsTer8
ENST00000586385.5:c.5-30571_5-30570del	ENSP00000465818.1:n.5-30571_5-30570del
ENST00000591534.5:c.-43-20001_-43-20000del	ENSP00000467329.1:n.-43-20001_-43-20000de...
ENST00000591849.5:c.-99+30749_-99+30750del	ENSP00000465347.1:n.-99+30749_-99+30750de...
ENST00000634433.1:c.886_887del	ENSP00000489431.1:p.Glu296LysfsTer8
NM_007294.3:c.1009_1010del , LRG_292t1:c.1009_1010del	NP_009225.1:p.Glu337LysfsTer8
NM_007297.3:c.868_869del	NP_009228.2:p.Glu290LysfsTer8
NM_007298.3:c.787+222_787+223del	NP_009229.2:n.787+222_787+223del
NM_007299.3:c.787+222_787+223del	NP_009230.2:n.787+222_787+223del
NM_007300.3:c.1009_1010del	NP_009231.2:p.Glu337LysfsTer8
NR_027676.1:n.1145_1146del
NM_007294.4:c.1009_1010del MANE Select	NP_009225.1:p.Glu337LysfsTer8
NM_007297.4:c.868_869del	NP_009228.2:p.Glu290LysfsTer8
NM_007299.4:c.787+222_787+223del	NP_009230.2:n.787+222_787+223del
NM_007300.4:c.1009_1010del	NP_009231.2:p.Glu337LysfsTer8
NR_027676.2:n.1186_1187del