Canonical Allele Identifier: CA916080158

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 855804
• ClinVar RCV Id: RCV001061143
• dbSNP Id: rs80357742

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43090947_43090948del , CM000679.2:g.43090947_43090948del	GRCh38
NC_000017.10:g.41242964_41242965del , CM000679.1:g.41242964_41242965del	GRCh37
NC_000017.9:g.38496490_38496491del	NCBI36
NG_005905.2:g.127037_127038del , LRG_292:g.127037_127038del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4182_4183del	ENSP00000417241.2:p.Gln1395AlafsTer8
ENST00000470026.6:c.4182_4183del	ENSP00000419274.2:p.Gln1395AlafsTer8
ENST00000473961.6:c.4056_4057del	ENSP00000420201.2:p.Gln1353AlafsTer8
ENST00000476777.6:c.4179_4180del	ENSP00000417554.2:p.Gln1394GlufsTer7
ENST00000477152.6:c.4104_4105del	ENSP00000419988.2:p.Gln1369AlafsTer8
ENST00000478531.6:c.870_871del	ENSP00000420412.2:p.Gln291AlafsTer8
ENST00000489037.2:c.4104_4105del	ENSP00000420781.2:p.Gln1369AlafsTer8
ENST00000493919.6:c.732_733del	ENSP00000418819.2:p.Gln245AlafsTer8
ENST00000494123.6:c.4182_4183del	ENSP00000419103.2:p.Gln1395AlafsTer8
ENST00000497488.2:c.3294_3295del	ENSP00000418986.2:p.Gln1099AlafsTer8
ENST00000618469.2:c.4182_4183del	ENSP00000478114.2:p.Gln1395AlafsTer8
ENST00000634433.2:c.4059_4060del	ENSP00000489431.2:p.Gln1354AlafsTer8
ENST00000644379.2:c.4182_4183del	ENSP00000496570.2:p.Gln1395AlafsTer8
ENST00000644555.2:c.732_733del	ENSP00000494614.2:p.Gln245AlafsTer8
ENST00000652672.2:c.4041_4042del	ENSP00000498906.2:p.Gln1348AlafsTer8
ENST00000484087.6:c.750_751del	ENSP00000419481.2:p.Gln251GlufsTer7
ENST00000700182.1:c.792_793del	ENSP00000514849.1:p.Gln265AlafsTer8
ENST00000357654.9:c.4182_4183del MANE Select	ENSP00000350283.3:p.Gln1395AlafsTer8
ENST00000471181.7:c.4182_4183del	ENSP00000418960.2:p.Gln1395AlafsTer8
ENST00000644379.1:c.503_504del
ENST00000352993.7:c.756_757del	ENSP00000312236.5:p.Gln253AlafsTer8
ENST00000357654.7:c.4182_4183del	ENSP00000350283.3:p.Gln1395AlafsTer8
ENST00000461221.5:c.*3965_*3966del	ENSP00000418548.1:n.*3965_*3966del
ENST00000461574.1:c.476_477del
ENST00000468300.5:c.873_874del	ENSP00000417148.1:p.Gln292AlafsTer8
ENST00000471181.6:c.4182_4183del	ENSP00000418960.2:p.Gln1395AlafsTer8
ENST00000478531.5:c.870_871del	ENSP00000420412.1:p.Gln291AlafsTer8
ENST00000484087.5:c.495_496del	ENSP00000419481.1:p.Gln166AlafsTer8
ENST00000487825.5:c.498_499del	ENSP00000418212.1:p.Gln167AlafsTer8
ENST00000491747.6:c.873_874del	ENSP00000420705.2:p.Gln292AlafsTer8
ENST00000493795.5:c.4041_4042del	ENSP00000418775.1:p.Gln1348AlafsTer8
ENST00000493919.5:c.732_733del	ENSP00000418819.1:p.Gln245AlafsTer8
ENST00000586385.5:c.5-26996_5-26995del	ENSP00000465818.1:n.5-26996_5-26995del
ENST00000591534.5:c.-43-16426_-43-16425del	ENSP00000467329.1:n.-43-16426_-43-16425del
ENST00000591849.5:c.-99+34324_-99+34325del	ENSP00000465347.1:n.-99+34324_-99+34325del
NM_007294.3:c.4182_4183del , LRG_292t1:c.4182_4183del	NP_009225.1:p.Gln1395AlafsTer8
NM_007297.3:c.4041_4042del	NP_009228.2:p.Gln1348AlafsTer8
NM_007298.3:c.873_874del	NP_009229.2:p.Gln292AlafsTer8
NM_007299.3:c.873_874del	NP_009230.2:p.Gln292AlafsTer8
NM_007300.3:c.4182_4183del	NP_009231.2:p.Gln1395AlafsTer8
NR_027676.1:n.4318_4319del
NM_007294.4:c.4182_4183del MANE Select	NP_009225.1:p.Gln1395AlafsTer8
NM_007297.4:c.4041_4042del	NP_009228.2:p.Gln1348AlafsTer8
NM_007299.4:c.873_874del	NP_009230.2:p.Gln292AlafsTer8
NM_007300.4:c.4182_4183del	NP_009231.2:p.Gln1395AlafsTer8
NR_027676.2:n.4359_4360del