Canonical Allele Identifier: CA626221318

Gene: BRCA1

Linked Data

• dbSNP Id: rs1263295759
• gnomAD v2: 17-41246243-ATCACTGGCCAGT-A
• gnomAD v4: 17-43094226-ATCACTGGCCAGT-A
• MyVariant Identifiers: chr17:g.41246244_41246255del (hg19) ; chr17:g.43094227_43094238del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094227_43094238del , CM000679.2:g.43094227_43094238del	GRCh38
NC_000017.10:g.41246244_41246255del , CM000679.1:g.41246244_41246255del	GRCh37
NC_000017.9:g.38499770_38499781del	NCBI36
NG_005905.2:g.123746_123757del , LRG_292:g.123746_123757del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.1357_1368del
ENST00000461574.2:c.1293_1304del	ENSP00000417241.2:p.Leu431_Asp435delinsPh...
ENST00000470026.6:c.1293_1304del	ENSP00000419274.2:p.Leu431_Asp435delinsPh...
ENST00000473961.6:c.1167_1178del	ENSP00000420201.2:p.Leu389_Asp393delinsPh...
ENST00000476777.6:c.1290_1301del	ENSP00000417554.2:p.Leu430_Asp434delinsPh...
ENST00000477152.6:c.1215_1226del	ENSP00000419988.2:p.Leu405_Asp409delinsPh...
ENST00000478531.6:c.784+506_784+517del	ENSP00000420412.2:n.784+506_784+517del
ENST00000489037.2:c.1215_1226del	ENSP00000420781.2:p.Leu405_Asp409delinsPh...
ENST00000493919.6:c.646+506_646+517del	ENSP00000418819.2:n.646+506_646+517del
ENST00000494123.6:c.1293_1304del	ENSP00000419103.2:p.Leu431_Asp435delinsPh...
ENST00000497488.2:c.405_416del	ENSP00000418986.2:p.Leu135_Asp139delinsPh...
ENST00000618469.2:c.1293_1304del	ENSP00000478114.2:p.Leu431_Asp435delinsPh...
ENST00000634433.2:c.1170_1181del	ENSP00000489431.2:p.Leu390_Asp394delinsPh...
ENST00000644379.2:c.1293_1304del	ENSP00000496570.2:p.Leu431_Asp435delinsPh...
ENST00000644555.2:c.646+506_646+517del	ENSP00000494614.2:n.646+506_646+517del
ENST00000652672.2:c.1152_1163del	ENSP00000498906.2:p.Leu384_Asp388delinsPh...
ENST00000484087.6:c.664+506_664+517del	ENSP00000419481.2:n.664+506_664+517del
ENST00000700182.1:c.706+506_706+517del	ENSP00000514849.1:n.706+506_706+517del
ENST00000700183.1:c.*1301_*1312del	ENSP00000514850.1:n.*1301_*1312del
ENST00000357654.9:c.1293_1304del MANE Select	ENSP00000350283.3:p.Leu431_Asp435delinsPh...
ENST00000471181.7:c.1293_1304del	ENSP00000418960.2:p.Leu431_Asp435delinsPh...
ENST00000652672.1:c.1152_1163del	ENSP00000498906.1:p.Leu384_Asp388delinsPh...
ENST00000352993.7:c.670+1608_670+1619del	ENSP00000312236.5:n.670+1608_670+1619del
ENST00000354071.7:c.1293_1304del	ENSP00000326002.7:p.Leu431_Asp435delinsPh...
ENST00000357654.7:c.1293_1304del	ENSP00000350283.3:p.Leu431_Asp435delinsPh...
ENST00000412061.3:c.644_655del
ENST00000461221.5:c.*1076_*1087del	ENSP00000418548.1:n.*1076_*1087del
ENST00000468300.5:c.787+506_787+517del	ENSP00000417148.1:n.787+506_787+517del
ENST00000470026.5:c.1293_1304del	ENSP00000419274.1:p.Leu431_Asp435delinsPh...
ENST00000471181.6:c.1293_1304del	ENSP00000418960.2:p.Leu431_Asp435delinsPh...
ENST00000473961.5:c.890_901del
ENST00000477152.5:c.1215_1226del	ENSP00000419988.1:p.Leu405_Asp409delinsPh...
ENST00000478531.5:c.784+506_784+517del	ENSP00000420412.1:n.784+506_784+517del
ENST00000484087.5:c.409+506_409+517del	ENSP00000419481.1:n.409+506_409+517del
ENST00000487825.5:c.412+506_412+517del	ENSP00000418212.1:n.412+506_412+517del
ENST00000491747.6:c.787+506_787+517del	ENSP00000420705.2:n.787+506_787+517del
ENST00000492859.5:c.*1229_*1240del	ENSP00000420253.1:n.*1229_*1240del
ENST00000493795.5:c.1152_1163del	ENSP00000418775.1:p.Leu384_Asp388delinsPh...
ENST00000493919.5:c.646+506_646+517del	ENSP00000418819.1:n.646+506_646+517del
ENST00000494123.5:c.1293_1304del	ENSP00000419103.1:p.Leu431_Asp435delinsPh...
ENST00000497488.1:c.405_416del	ENSP00000418986.1:p.Leu135_Asp139delinsPh...
ENST00000586385.5:c.5-30287_5-30276del	ENSP00000465818.1:n.5-30287_5-30276del
ENST00000591534.5:c.-43-19717_-43-19706del	ENSP00000467329.1:n.-43-19717_-43-19706de...
ENST00000591849.5:c.-99+31033_-99+31044del	ENSP00000465347.1:n.-99+31033_-99+31044de...
ENST00000634433.1:c.1170_1181del	ENSP00000489431.1:p.Leu390_Asp394delinsPh...
NM_007294.3:c.1293_1304del , LRG_292t1:c.1293_1304del	NP_009225.1:p.Leu431_Asp435delinsPhe
NM_007297.3:c.1152_1163del	NP_009228.2:p.Leu384_Asp388delinsPhe
NM_007298.3:c.787+506_787+517del	NP_009229.2:n.787+506_787+517del
NM_007299.3:c.787+506_787+517del	NP_009230.2:n.787+506_787+517del
NM_007300.3:c.1293_1304del	NP_009231.2:p.Leu431_Asp435delinsPhe
NR_027676.1:n.1429_1440del
NM_007294.4:c.1293_1304del MANE Select	NP_009225.1:p.Leu431_Asp435delinsPhe
NM_007297.4:c.1152_1163del	NP_009228.2:p.Leu384_Asp388delinsPhe
NM_007299.4:c.787+506_787+517del	NP_009230.2:n.787+506_787+517del
NM_007300.4:c.1293_1304del	NP_009231.2:p.Leu431_Asp435delinsPhe
NR_027676.2:n.1470_1481del