Canonical Allele Identifier: CA002577

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 96923
• ClinVar RCV Id: RCV000083044 ; RCV000129276
• dbSNP Id: rs431825404
• MyVariant Identifiers: chr17:g.41243507_41243510del (hg19) ; chr17:g.43091490_43091493del (hg38)
• PubMed: PMID:22762150 ; PMID:29165669

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091494_43091497del , CM000679.2:g.43091494_43091497del	GRCh38
NC_000017.10:g.41243511_41243514del , CM000679.1:g.41243511_41243514del	GRCh37
NC_000017.9:g.38497037_38497040del	NCBI36
NG_005905.2:g.126491_126494del , LRG_292:g.126491_126494del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.4102_4105del
ENST00000461574.2:c.4038_4041del	ENSP00000417241.2:p.Arg1347GlufsTer18
ENST00000470026.6:c.4038_4041del	ENSP00000419274.2:p.Arg1347GlufsTer18
ENST00000473961.6:c.3912_3915del	ENSP00000420201.2:p.Arg1305GlufsTer18
ENST00000476777.6:c.4035_4038del	ENSP00000417554.2:p.Arg1346GlufsTer18
ENST00000477152.6:c.3960_3963del	ENSP00000419988.2:p.Arg1321GlufsTer18
ENST00000478531.6:c.785-461_785-458del	ENSP00000420412.2:n.785-461_785-458del
ENST00000489037.2:c.3960_3963del	ENSP00000420781.2:p.Arg1321GlufsTer18
ENST00000493919.6:c.647-461_647-458del	ENSP00000418819.2:n.647-461_647-458del
ENST00000494123.6:c.4038_4041del	ENSP00000419103.2:p.Arg1347GlufsTer18
ENST00000497488.2:c.3150_3153del	ENSP00000418986.2:p.Arg1051GlufsTer18
ENST00000618469.2:c.4038_4041del	ENSP00000478114.2:p.Arg1347GlufsTer18
ENST00000634433.2:c.3915_3918del	ENSP00000489431.2:p.Arg1306GlufsTer18
ENST00000644379.2:c.4038_4041del	ENSP00000496570.2:p.Arg1347GlufsTer18
ENST00000644555.2:c.647-461_647-458del	ENSP00000494614.2:n.647-461_647-458del
ENST00000652672.2:c.3897_3900del	ENSP00000498906.2:p.Arg1300GlufsTer18
ENST00000484087.6:c.665-461_665-458del	ENSP00000419481.2:n.665-461_665-458del
ENST00000700182.1:c.707-461_707-458del	ENSP00000514849.1:n.707-461_707-458del
ENST00000357654.9:c.4038_4041del MANE Select	ENSP00000350283.3:p.Arg1347GlufsTer18
ENST00000471181.7:c.4038_4041del	ENSP00000418960.2:p.Arg1347GlufsTer18
ENST00000644379.1:c.359_362del
ENST00000352993.7:c.671-461_671-458del	ENSP00000312236.5:n.671-461_671-458del
ENST00000354071.7:c.4038_4041del	ENSP00000326002.7:p.Arg1347GlufsTer18
ENST00000357654.7:c.4038_4041del	ENSP00000350283.3:p.Arg1347GlufsTer18
ENST00000461221.5:c.*3821_*3824del	ENSP00000418548.1:n.*3821_*3824del
ENST00000461574.1:c.332_335del
ENST00000468300.5:c.788-461_788-458del	ENSP00000417148.1:n.788-461_788-458del
ENST00000471181.6:c.4038_4041del	ENSP00000418960.2:p.Arg1347GlufsTer18
ENST00000478531.5:c.785-461_785-458del	ENSP00000420412.1:n.785-461_785-458del
ENST00000484087.5:c.410-461_410-458del	ENSP00000419481.1:n.410-461_410-458del
ENST00000487825.5:c.413-461_413-458del	ENSP00000418212.1:n.413-461_413-458del
ENST00000491747.6:c.788-461_788-458del	ENSP00000420705.2:n.788-461_788-458del
ENST00000493795.5:c.3897_3900del	ENSP00000418775.1:p.Arg1300GlufsTer18
ENST00000493919.5:c.647-461_647-458del	ENSP00000418819.1:n.647-461_647-458del
ENST00000586385.5:c.5-27542_5-27539del	ENSP00000465818.1:n.5-27542_5-27539del
ENST00000591534.5:c.-43-16972_-43-16969del	ENSP00000467329.1:n.-43-16972_-43-16969de...
ENST00000591849.5:c.-99+33778_-99+33781del	ENSP00000465347.1:n.-99+33778_-99+33781de...
NM_007294.3:c.4038_4041del , LRG_292t1:c.4038_4041del	NP_009225.1:p.Arg1347GlufsTer18
NM_007297.3:c.3897_3900del	NP_009228.2:p.Arg1300GlufsTer18
NM_007298.3:c.788-461_788-458del	NP_009229.2:n.788-461_788-458del
NM_007299.3:c.788-461_788-458del	NP_009230.2:n.788-461_788-458del
NM_007300.3:c.4038_4041del	NP_009231.2:p.Arg1347GlufsTer18
NR_027676.1:n.4174_4177del
NM_007294.4:c.4038_4041del MANE Select	NP_009225.1:p.Arg1347GlufsTer18
NM_007297.4:c.3897_3900del	NP_009228.2:p.Arg1300GlufsTer18
NM_007299.4:c.788-461_788-458del	NP_009230.2:n.788-461_788-458del
NM_007300.4:c.4038_4041del	NP_009231.2:p.Arg1347GlufsTer18
NR_027676.2:n.4215_4218del