Canonical Allele Identifier: CA2260782481

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1044787
• ClinVar RCV Id: RCV001349091
• dbSNP Id: rs2053566566

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091980_43091982del , CM000679.2:g.43091980_43091982del	GRCh38
NC_000017.10:g.41243997_41243999del , CM000679.1:g.41243997_41243999del	GRCh37
NC_000017.9:g.38497523_38497525del	NCBI36
NG_005905.2:g.126004_126006del , LRG_292:g.126004_126006del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3615_3617del
ENST00000461574.2:c.3551_3553del	ENSP00000417241.2:p.Gly1184del
ENST00000470026.6:c.3551_3553del	ENSP00000419274.2:p.Gly1184del
ENST00000473961.6:c.3425_3427del	ENSP00000420201.2:p.Gly1142del
ENST00000476777.6:c.3548_3550del	ENSP00000417554.2:p.Gly1183del
ENST00000477152.6:c.3473_3475del	ENSP00000419988.2:p.Gly1158del
ENST00000478531.6:c.785-948_785-946del	ENSP00000420412.2:n.785-948_785-946del
ENST00000489037.2:c.3473_3475del	ENSP00000420781.2:p.Gly1158del
ENST00000493919.6:c.647-948_647-946del	ENSP00000418819.2:n.647-948_647-946del
ENST00000494123.6:c.3551_3553del	ENSP00000419103.2:p.Gly1184del
ENST00000497488.2:c.2663_2665del	ENSP00000418986.2:p.Gly888del
ENST00000618469.2:c.3551_3553del	ENSP00000478114.2:p.Gly1184del
ENST00000634433.2:c.3428_3430del	ENSP00000489431.2:p.Gly1143del
ENST00000644379.2:c.3551_3553del	ENSP00000496570.2:p.Gly1184del
ENST00000644555.2:c.647-948_647-946del	ENSP00000494614.2:n.647-948_647-946del
ENST00000652672.2:c.3410_3412del	ENSP00000498906.2:p.Gly1137del
ENST00000484087.6:c.665-948_665-946del	ENSP00000419481.2:n.665-948_665-946del
ENST00000700182.1:c.707-948_707-946del	ENSP00000514849.1:n.707-948_707-946del
ENST00000357654.9:c.3551_3553del MANE Select	ENSP00000350283.3:p.Gly1184del
ENST00000471181.7:c.3551_3553del	ENSP00000418960.2:p.Gly1184del
ENST00000352993.7:c.671-948_671-946del	ENSP00000312236.5:n.671-948_671-946del
ENST00000354071.7:c.3551_3553del	ENSP00000326002.7:p.Gly1184del
ENST00000357654.7:c.3551_3553del	ENSP00000350283.3:p.Gly1184del
ENST00000461221.5:c.*3334_*3336del	ENSP00000418548.1:n.*3334_*3336del
ENST00000468300.5:c.788-948_788-946del	ENSP00000417148.1:n.788-948_788-946del
ENST00000471181.6:c.3551_3553del	ENSP00000418960.2:p.Gly1184del
ENST00000478531.5:c.785-948_785-946del	ENSP00000420412.1:n.785-948_785-946del
ENST00000484087.5:c.410-948_410-946del	ENSP00000419481.1:n.410-948_410-946del
ENST00000487825.5:c.413-948_413-946del	ENSP00000418212.1:n.413-948_413-946del
ENST00000491747.6:c.788-948_788-946del	ENSP00000420705.2:n.788-948_788-946del
ENST00000493795.5:c.3410_3412del	ENSP00000418775.1:p.Gly1137del
ENST00000493919.5:c.647-948_647-946del	ENSP00000418819.1:n.647-948_647-946del
ENST00000586385.5:c.5-28029_5-28027del	ENSP00000465818.1:n.5-28029_5-28027del
ENST00000591534.5:c.-43-17459_-43-17457del	ENSP00000467329.1:n.-43-17459_-43-17457del
ENST00000591849.5:c.-99+33291_-99+33293del	ENSP00000465347.1:n.-99+33291_-99+33293del
NM_007294.3:c.3551_3553del , LRG_292t1:c.3551_3553del	NP_009225.1:p.Gly1184del
NM_007297.3:c.3410_3412del	NP_009228.2:p.Gly1137del
NM_007298.3:c.788-948_788-946del	NP_009229.2:n.788-948_788-946del
NM_007299.3:c.788-948_788-946del	NP_009230.2:n.788-948_788-946del
NM_007300.3:c.3551_3553del	NP_009231.2:p.Gly1184del
NR_027676.1:n.3687_3689del
NM_007294.4:c.3551_3553del MANE Select	NP_009225.1:p.Gly1184del
NM_007297.4:c.3410_3412del	NP_009228.2:p.Gly1137del
NM_007299.4:c.788-948_788-946del	NP_009230.2:n.788-948_788-946del
NM_007300.4:c.3551_3553del	NP_009231.2:p.Gly1184del
NR_027676.2:n.3728_3730del