Canonical Allele Identifier: CA10589684

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266453
• ClinVar RCV Id: RCV000257661
• dbSNP Id: rs886040210
• MyVariant Identifiers: chr17:g.41242983_41242984del (hg19) ; chr17:g.43090966_43090967del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43090966_43090967del , CM000679.2:g.43090966_43090967del	GRCh38
NC_000017.10:g.41242983_41242984del , CM000679.1:g.41242983_41242984del	GRCh37
NC_000017.9:g.38496509_38496510del	NCBI36
NG_005905.2:g.127017_127018del , LRG_292:g.127017_127018del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4162_4163del	ENSP00000417241.2:p.Gln1388GlufsTer2
ENST00000470026.6:c.4162_4163del	ENSP00000419274.2:p.Gln1388GlufsTer2
ENST00000473961.6:c.4036_4037del	ENSP00000420201.2:p.Gln1346GlufsTer2
ENST00000476777.6:c.4159_4160del	ENSP00000417554.2:p.Gln1387GlufsTer2
ENST00000477152.6:c.4084_4085del	ENSP00000419988.2:p.Gln1362GlufsTer2
ENST00000478531.6:c.850_851del	ENSP00000420412.2:p.Gln284GlufsTer2
ENST00000489037.2:c.4084_4085del	ENSP00000420781.2:p.Gln1362GlufsTer2
ENST00000493919.6:c.712_713del	ENSP00000418819.2:p.Gln238GlufsTer2
ENST00000494123.6:c.4162_4163del	ENSP00000419103.2:p.Gln1388GlufsTer2
ENST00000497488.2:c.3274_3275del	ENSP00000418986.2:p.Gln1092GlufsTer2
ENST00000618469.2:c.4162_4163del	ENSP00000478114.2:p.Gln1388GlufsTer2
ENST00000634433.2:c.4039_4040del	ENSP00000489431.2:p.Gln1347GlufsTer2
ENST00000644379.2:c.4162_4163del	ENSP00000496570.2:p.Gln1388GlufsTer2
ENST00000644555.2:c.712_713del	ENSP00000494614.2:p.Gln238GlufsTer2
ENST00000652672.2:c.4021_4022del	ENSP00000498906.2:p.Gln1341GlufsTer2
ENST00000484087.6:c.730_731del	ENSP00000419481.2:p.Gln244GlufsTer2
ENST00000700182.1:c.772_773del	ENSP00000514849.1:p.Gln258GlufsTer2
ENST00000357654.9:c.4162_4163del MANE Select	ENSP00000350283.3:p.Gln1388GlufsTer2
ENST00000471181.7:c.4162_4163del	ENSP00000418960.2:p.Gln1388GlufsTer2
ENST00000644379.1:c.483_484del
ENST00000352993.7:c.736_737del	ENSP00000312236.5:p.Gln246GlufsTer2
ENST00000357654.7:c.4162_4163del	ENSP00000350283.3:p.Gln1388GlufsTer2
ENST00000461221.5:c.*3945_*3946del	ENSP00000418548.1:n.*3945_*3946del
ENST00000461574.1:c.456_457del
ENST00000468300.5:c.853_854del	ENSP00000417148.1:p.Gln285GlufsTer2
ENST00000471181.6:c.4162_4163del	ENSP00000418960.2:p.Gln1388GlufsTer2
ENST00000478531.5:c.850_851del	ENSP00000420412.1:p.Gln284GlufsTer2
ENST00000484087.5:c.475_476del	ENSP00000419481.1:p.Gln159GlufsTer2
ENST00000487825.5:c.478_479del	ENSP00000418212.1:p.Gln160GlufsTer2
ENST00000491747.6:c.853_854del	ENSP00000420705.2:p.Gln285GlufsTer2
ENST00000493795.5:c.4021_4022del	ENSP00000418775.1:p.Gln1341GlufsTer2
ENST00000493919.5:c.712_713del	ENSP00000418819.1:p.Gln238GlufsTer2
ENST00000586385.5:c.5-27016_5-27015del	ENSP00000465818.1:n.5-27016_5-27015del
ENST00000591534.5:c.-43-16446_-43-16445del	ENSP00000467329.1:n.-43-16446_-43-16445de...
ENST00000591849.5:c.-99+34304_-99+34305del	ENSP00000465347.1:n.-99+34304_-99+34305de...
NM_007294.3:c.4162_4163del , LRG_292t1:c.4162_4163del	NP_009225.1:p.Gln1388GlufsTer2
NM_007297.3:c.4021_4022del	NP_009228.2:p.Gln1341GlufsTer2
NM_007298.3:c.853_854del	NP_009229.2:p.Gln285GlufsTer2
NM_007299.3:c.853_854del	NP_009230.2:p.Gln285GlufsTer2
NM_007300.3:c.4162_4163del	NP_009231.2:p.Gln1388GlufsTer2
NR_027676.1:n.4298_4299del
NM_007294.4:c.4162_4163del MANE Select	NP_009225.1:p.Gln1388GlufsTer2
NM_007297.4:c.4021_4022del	NP_009228.2:p.Gln1341GlufsTer2
NM_007299.4:c.853_854del	NP_009230.2:p.Gln285GlufsTer2
NM_007300.4:c.4162_4163del	NP_009231.2:p.Gln1388GlufsTer2
NR_027676.2:n.4339_4340del