Canonical Allele Identifier: CA000784

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 54158
• ClinVar RCV Id: RCV000047374 ; RCV000225758 ; RCV000241521 ; RCV001010224
• dbSNP Id: rs397508845
• MyVariant Identifiers: chr17:g.41246360del (hg19) ; chr17:g.43094343del (hg38)
• PubMed: PMID:17131039

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094343del , CM000679.2:g.43094343del	GRCh38
NC_000017.10:g.41246360del , CM000679.1:g.41246360del	GRCh37
NC_000017.9:g.38499886del	NCBI36
NG_005905.2:g.123641del , LRG_292:g.123641del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.1252del
ENST00000461574.2:c.1188del	ENSP00000417241.2:p.Asp396GlufsTer14
ENST00000470026.6:c.1188del	ENSP00000419274.2:p.Asp396GlufsTer14
ENST00000473961.6:c.1062del	ENSP00000420201.2:p.Asp354GlufsTer14
ENST00000476777.6:c.1185del	ENSP00000417554.2:p.Asp395GlufsTer14
ENST00000477152.6:c.1110del	ENSP00000419988.2:p.Asp370GlufsTer14
ENST00000478531.6:c.784+401del	ENSP00000420412.2:n.784+401del
ENST00000489037.2:c.1110del	ENSP00000420781.2:p.Asp370GlufsTer14
ENST00000493919.6:c.646+401del	ENSP00000418819.2:n.646+401del
ENST00000494123.6:c.1188del	ENSP00000419103.2:p.Asp396GlufsTer14
ENST00000497488.2:c.300del	ENSP00000418986.2:p.Asp100GlufsTer14
ENST00000618469.2:c.1188del	ENSP00000478114.2:p.Asp396GlufsTer14
ENST00000634433.2:c.1065del	ENSP00000489431.2:p.Asp355GlufsTer14
ENST00000644379.2:c.1188del	ENSP00000496570.2:p.Asp396GlufsTer14
ENST00000644555.2:c.646+401del	ENSP00000494614.2:n.646+401del
ENST00000652672.2:c.1047del	ENSP00000498906.2:p.Asp349GlufsTer14
ENST00000484087.6:c.664+401del	ENSP00000419481.2:n.664+401del
ENST00000700182.1:c.706+401del	ENSP00000514849.1:n.706+401del
ENST00000700183.1:c.*1196del	ENSP00000514850.1:n.*1196del
ENST00000357654.9:c.1188del MANE Select	ENSP00000350283.3:p.Asp396GlufsTer14
ENST00000471181.7:c.1188del	ENSP00000418960.2:p.Asp396GlufsTer14
ENST00000652672.1:c.1047del	ENSP00000498906.1:p.Asp349GlufsTer14
ENST00000352993.7:c.670+1503del	ENSP00000312236.5:n.670+1503del
ENST00000354071.7:c.1188del	ENSP00000326002.7:p.Asp396GlufsTer14
ENST00000357654.7:c.1188del	ENSP00000350283.3:p.Asp396GlufsTer14
ENST00000412061.3:c.539del
ENST00000461221.5:c.*971del	ENSP00000418548.1:n.*971del
ENST00000468300.5:c.787+401del	ENSP00000417148.1:n.787+401del
ENST00000470026.5:c.1188del	ENSP00000419274.1:p.Asp396GlufsTer14
ENST00000471181.6:c.1188del	ENSP00000418960.2:p.Asp396GlufsTer14
ENST00000473961.5:c.785del
ENST00000477152.5:c.1110del	ENSP00000419988.1:p.Asp370GlufsTer14
ENST00000478531.5:c.784+401del	ENSP00000420412.1:n.784+401del
ENST00000484087.5:c.409+401del	ENSP00000419481.1:n.409+401del
ENST00000487825.5:c.412+401del	ENSP00000418212.1:n.412+401del
ENST00000491747.6:c.787+401del	ENSP00000420705.2:n.787+401del
ENST00000492859.5:c.*1124del	ENSP00000420253.1:n.*1124del
ENST00000493795.5:c.1047del	ENSP00000418775.1:p.Asp349GlufsTer14
ENST00000493919.5:c.646+401del	ENSP00000418819.1:n.646+401del
ENST00000494123.5:c.1188del	ENSP00000419103.1:p.Asp396GlufsTer14
ENST00000497488.1:c.300del	ENSP00000418986.1:p.Asp100GlufsTer14
ENST00000586385.5:c.5-30392del	ENSP00000465818.1:n.5-30392del
ENST00000591534.5:c.-43-19822del	ENSP00000467329.1:n.-43-19822del
ENST00000591849.5:c.-99+30928del	ENSP00000465347.1:n.-99+30928del
ENST00000634433.1:c.1065del	ENSP00000489431.1:p.Asp355GlufsTer14
NM_007294.3:c.1188del , LRG_292t1:c.1188del	NP_009225.1:p.Asp396GlufsTer14
NM_007297.3:c.1047del	NP_009228.2:p.Asp349GlufsTer14
NM_007298.3:c.787+401del	NP_009229.2:n.787+401del
NM_007299.3:c.787+401del	NP_009230.2:n.787+401del
NM_007300.3:c.1188del	NP_009231.2:p.Asp396GlufsTer14
NR_027676.1:n.1324del
NM_007294.4:c.1188del MANE Select	NP_009225.1:p.Asp396GlufsTer14
NM_007297.4:c.1047del	NP_009228.2:p.Asp349GlufsTer14
NM_007299.4:c.787+401del	NP_009230.2:n.787+401del
NM_007300.4:c.1188del	NP_009231.2:p.Asp396GlufsTer14
NR_027676.2:n.1365del