Canonical Allele Identifier: CA002591

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55091
• ClinVar RCV Id: RCV000257385 ; RCV002321548 ; RCV001383761 ; RCV001781377
• dbSNP Id: rs397509133
• MyVariant Identifiers: chr17:g.41243487_41243491del (hg19) ; chr17:g.43091470_43091474del (hg38)
• PubMed: PMID:21318380

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091472_43091476del , CM000679.2:g.43091472_43091476del	GRCh38
NC_000017.10:g.41243489_41243493del , CM000679.1:g.41243489_41243493del	GRCh37
NC_000017.9:g.38497015_38497019del	NCBI36
NG_005905.2:g.126510_126514del , LRG_292:g.126510_126514del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.4121_4125del
ENST00000461574.2:c.4057_4061del	ENSP00000417241.2:p.Glu1353Ter
ENST00000470026.6:c.4057_4061del	ENSP00000419274.2:p.Glu1353Ter
ENST00000473961.6:c.3931_3935del	ENSP00000420201.2:p.Glu1311Ter
ENST00000476777.6:c.4054_4058del	ENSP00000417554.2:p.Glu1352Ter
ENST00000477152.6:c.3979_3983del	ENSP00000419988.2:p.Glu1327Ter
ENST00000478531.6:c.785-442_785-438del	ENSP00000420412.2:n.785-442_785-438del
ENST00000489037.2:c.3979_3983del	ENSP00000420781.2:p.Glu1327Ter
ENST00000493919.6:c.647-442_647-438del	ENSP00000418819.2:n.647-442_647-438del
ENST00000494123.6:c.4057_4061del	ENSP00000419103.2:p.Glu1353Ter
ENST00000497488.2:c.3169_3173del	ENSP00000418986.2:p.Glu1057Ter
ENST00000618469.2:c.4057_4061del	ENSP00000478114.2:p.Glu1353Ter
ENST00000634433.2:c.3934_3938del	ENSP00000489431.2:p.Glu1312Ter
ENST00000644379.2:c.4057_4061del	ENSP00000496570.2:p.Glu1353Ter
ENST00000644555.2:c.647-442_647-438del	ENSP00000494614.2:n.647-442_647-438del
ENST00000652672.2:c.3916_3920del	ENSP00000498906.2:p.Glu1306Ter
ENST00000484087.6:c.665-442_665-438del	ENSP00000419481.2:n.665-442_665-438del
ENST00000700182.1:c.707-442_707-438del	ENSP00000514849.1:n.707-442_707-438del
ENST00000357654.9:c.4057_4061del MANE Select	ENSP00000350283.3:p.Glu1353Ter
ENST00000471181.7:c.4057_4061del	ENSP00000418960.2:p.Glu1353Ter
ENST00000644379.1:c.378_382del
ENST00000352993.7:c.671-442_671-438del	ENSP00000312236.5:n.671-442_671-438del
ENST00000354071.7:c.4057_4061del	ENSP00000326002.7:p.Glu1353Ter
ENST00000357654.7:c.4057_4061del	ENSP00000350283.3:p.Glu1353Ter
ENST00000461221.5:c.*3840_*3844del	ENSP00000418548.1:n.*3840_*3844del
ENST00000461574.1:c.351_355del
ENST00000468300.5:c.788-442_788-438del	ENSP00000417148.1:n.788-442_788-438del
ENST00000471181.6:c.4057_4061del	ENSP00000418960.2:p.Glu1353Ter
ENST00000478531.5:c.785-442_785-438del	ENSP00000420412.1:n.785-442_785-438del
ENST00000484087.5:c.410-442_410-438del	ENSP00000419481.1:n.410-442_410-438del
ENST00000487825.5:c.413-442_413-438del	ENSP00000418212.1:n.413-442_413-438del
ENST00000491747.6:c.788-442_788-438del	ENSP00000420705.2:n.788-442_788-438del
ENST00000493795.5:c.3916_3920del	ENSP00000418775.1:p.Glu1306Ter
ENST00000493919.5:c.647-442_647-438del	ENSP00000418819.1:n.647-442_647-438del
ENST00000586385.5:c.5-27523_5-27519del	ENSP00000465818.1:n.5-27523_5-27519del
ENST00000591534.5:c.-43-16953_-43-16949del	ENSP00000467329.1:n.-43-16953_-43-16949del
ENST00000591849.5:c.-99+33797_-99+33801del	ENSP00000465347.1:n.-99+33797_-99+33801del
NM_007294.3:c.4057_4061del , LRG_292t1:c.4057_4061del	NP_009225.1:p.Glu1353Ter
NM_007297.3:c.3916_3920del	NP_009228.2:p.Glu1306Ter
NM_007298.3:c.788-442_788-438del	NP_009229.2:n.788-442_788-438del
NM_007299.3:c.788-442_788-438del	NP_009230.2:n.788-442_788-438del
NM_007300.3:c.4057_4061del	NP_009231.2:p.Glu1353Ter
NR_027676.1:n.4193_4197del
NM_007294.4:c.4057_4061del MANE Select	NP_009225.1:p.Glu1353Ter
NM_007297.4:c.3916_3920del	NP_009228.2:p.Glu1306Ter
NM_007299.4:c.788-442_788-438del	NP_009230.2:n.788-442_788-438del
NM_007300.4:c.4057_4061del	NP_009231.2:p.Glu1353Ter
NR_027676.2:n.4234_4238del