Canonical Allele Identifier: CA002659

Gene: BRCA1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43090969_43090973del , CM000679.2:g.43090969_43090973del	GRCh38
NC_000017.10:g.41242986_41242990del , CM000679.1:g.41242986_41242990del	GRCh37
NC_000017.9:g.38496512_38496516del	NCBI36
NG_005905.2:g.127013_127017del , LRG_292:g.127013_127017del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4158_4162del	ENSP00000417241.2:p.Ser1387GlufsTer2
ENST00000470026.6:c.4158_4162del	ENSP00000419274.2:p.Ser1387GlufsTer2
ENST00000473961.6:c.4032_4036del	ENSP00000420201.2:p.Ser1345GlufsTer2
ENST00000476777.6:c.4155_4159del	ENSP00000417554.2:p.Ser1386GlufsTer2
ENST00000477152.6:c.4080_4084del	ENSP00000419988.2:p.Ser1361GlufsTer2
ENST00000478531.6:c.846_850del	ENSP00000420412.2:p.Ser283GlufsTer2
ENST00000489037.2:c.4080_4084del	ENSP00000420781.2:p.Ser1361GlufsTer2
ENST00000493919.6:c.708_712del	ENSP00000418819.2:p.Ser237GlufsTer2
ENST00000494123.6:c.4158_4162del	ENSP00000419103.2:p.Ser1387GlufsTer2
ENST00000497488.2:c.3270_3274del	ENSP00000418986.2:p.Ser1091GlufsTer2
ENST00000618469.2:c.4158_4162del	ENSP00000478114.2:p.Ser1387GlufsTer2
ENST00000634433.2:c.4035_4039del	ENSP00000489431.2:p.Ser1346GlufsTer2
ENST00000644379.2:c.4158_4162del	ENSP00000496570.2:p.Ser1387GlufsTer2
ENST00000644555.2:c.708_712del	ENSP00000494614.2:p.Ser237GlufsTer2
ENST00000652672.2:c.4017_4021del	ENSP00000498906.2:p.Ser1340GlufsTer2
ENST00000484087.6:c.726_730del	ENSP00000419481.2:p.Ser243GlufsTer2
ENST00000700182.1:c.768_772del	ENSP00000514849.1:p.Ser257GlufsTer2
ENST00000357654.9:c.4158_4162del MANE Select	ENSP00000350283.3:p.Ser1387GlufsTer2
ENST00000471181.7:c.4158_4162del	ENSP00000418960.2:p.Ser1387GlufsTer2
ENST00000644379.1:c.479_483del
ENST00000352993.7:c.732_736del	ENSP00000312236.5:p.Ser245GlufsTer2
ENST00000357654.7:c.4158_4162del	ENSP00000350283.3:p.Ser1387GlufsTer2
ENST00000461221.5:c.*3941_*3945del	ENSP00000418548.1:n.*3941_*3945del
ENST00000461574.1:c.452_456del
ENST00000468300.5:c.849_853del	ENSP00000417148.1:p.Ser284GlufsTer2
ENST00000471181.6:c.4158_4162del	ENSP00000418960.2:p.Ser1387GlufsTer2
ENST00000478531.5:c.846_850del	ENSP00000420412.1:p.Ser283GlufsTer2
ENST00000484087.5:c.471_475del	ENSP00000419481.1:p.Ser158GlufsTer2
ENST00000487825.5:c.474_478del	ENSP00000418212.1:p.Ser159GlufsTer2
ENST00000491747.6:c.849_853del	ENSP00000420705.2:p.Ser284GlufsTer2
ENST00000493795.5:c.4017_4021del	ENSP00000418775.1:p.Ser1340GlufsTer2
ENST00000493919.5:c.708_712del	ENSP00000418819.1:p.Ser237GlufsTer2
ENST00000586385.5:c.5-27020_5-27016del	ENSP00000465818.1:n.5-27020_5-27016del
ENST00000591534.5:c.-43-16450_-43-16446del	ENSP00000467329.1:n.-43-16450_-43-16446del
ENST00000591849.5:c.-99+34300_-99+34304del	ENSP00000465347.1:n.-99+34300_-99+34304del
NM_007294.3:c.4158_4162del , LRG_292t1:c.4158_4162del	NP_009225.1:p.Ser1387GlufsTer2
NM_007297.3:c.4017_4021del	NP_009228.2:p.Ser1340GlufsTer2
NM_007298.3:c.849_853del	NP_009229.2:p.Ser284GlufsTer2
NM_007299.3:c.849_853del	NP_009230.2:p.Ser284GlufsTer2
NM_007300.3:c.4158_4162del	NP_009231.2:p.Ser1387GlufsTer2
NR_027676.1:n.4294_4298del
NM_007294.4:c.4158_4162del MANE Select	NP_009225.1:p.Ser1387GlufsTer2
NM_007297.4:c.4017_4021del	NP_009228.2:p.Ser1340GlufsTer2
NM_007299.4:c.849_853del	NP_009230.2:p.Ser284GlufsTer2
NM_007300.4:c.4158_4162del	NP_009231.2:p.Ser1387GlufsTer2
NR_027676.2:n.4335_4339del