Canonical Allele Identifier: CA2739265621

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2812748
• ClinVar RCV Id: RCV003645540

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091973_43091986del , CM000679.2:g.43091973_43091986del	GRCh38
NC_000017.10:g.41243990_41244003del , CM000679.1:g.41243990_41244003del	GRCh37
NC_000017.9:g.38497516_38497529del	NCBI36
NG_005905.2:g.126000_126013del , LRG_292:g.126000_126013del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3611_3624del
ENST00000461574.2:c.3547_3560del	ENSP00000417241.2:p.Lys1183GlnfsTer4
ENST00000470026.6:c.3547_3560del	ENSP00000419274.2:p.Lys1183GlnfsTer4
ENST00000473961.6:c.3421_3434del	ENSP00000420201.2:p.Lys1141GlnfsTer4
ENST00000476777.6:c.3544_3557del	ENSP00000417554.2:p.Lys1182GlnfsTer4
ENST00000477152.6:c.3469_3482del	ENSP00000419988.2:p.Lys1157GlnfsTer4
ENST00000478531.6:c.785-952_785-939del	ENSP00000420412.2:n.785-952_785-939del
ENST00000489037.2:c.3469_3482del	ENSP00000420781.2:p.Lys1157GlnfsTer4
ENST00000493919.6:c.647-952_647-939del	ENSP00000418819.2:n.647-952_647-939del
ENST00000494123.6:c.3547_3560del	ENSP00000419103.2:p.Lys1183GlnfsTer4
ENST00000497488.2:c.2659_2672del	ENSP00000418986.2:p.Lys887GlnfsTer4
ENST00000618469.2:c.3547_3560del	ENSP00000478114.2:p.Lys1183GlnfsTer4
ENST00000634433.2:c.3424_3437del	ENSP00000489431.2:p.Lys1142GlnfsTer4
ENST00000644379.2:c.3547_3560del	ENSP00000496570.2:p.Lys1183GlnfsTer4
ENST00000644555.2:c.647-952_647-939del	ENSP00000494614.2:n.647-952_647-939del
ENST00000652672.2:c.3406_3419del	ENSP00000498906.2:p.Lys1136GlnfsTer4
ENST00000484087.6:c.665-952_665-939del	ENSP00000419481.2:n.665-952_665-939del
ENST00000700182.1:c.707-952_707-939del	ENSP00000514849.1:n.707-952_707-939del
ENST00000357654.9:c.3547_3560del MANE Select	ENSP00000350283.3:p.Lys1183GlnfsTer4
ENST00000471181.7:c.3547_3560del	ENSP00000418960.2:p.Lys1183GlnfsTer4
ENST00000352993.7:c.671-952_671-939del	ENSP00000312236.5:n.671-952_671-939del
ENST00000354071.7:c.3547_3560del	ENSP00000326002.7:p.Lys1183GlnfsTer4
ENST00000357654.7:c.3547_3560del	ENSP00000350283.3:p.Lys1183GlnfsTer4
ENST00000461221.5:c.*3330_*3343del	ENSP00000418548.1:n.*3330_*3343del
ENST00000468300.5:c.788-952_788-939del	ENSP00000417148.1:n.788-952_788-939del
ENST00000471181.6:c.3547_3560del	ENSP00000418960.2:p.Lys1183GlnfsTer4
ENST00000478531.5:c.785-952_785-939del	ENSP00000420412.1:n.785-952_785-939del
ENST00000484087.5:c.410-952_410-939del	ENSP00000419481.1:n.410-952_410-939del
ENST00000487825.5:c.413-952_413-939del	ENSP00000418212.1:n.413-952_413-939del
ENST00000491747.6:c.788-952_788-939del	ENSP00000420705.2:n.788-952_788-939del
ENST00000493795.5:c.3406_3419del	ENSP00000418775.1:p.Lys1136GlnfsTer4
ENST00000493919.5:c.647-952_647-939del	ENSP00000418819.1:n.647-952_647-939del
ENST00000586385.5:c.5-28033_5-28020del	ENSP00000465818.1:n.5-28033_5-28020del
ENST00000591534.5:c.-43-17463_-43-17450del	ENSP00000467329.1:n.-43-17463_-43-17450del
ENST00000591849.5:c.-99+33287_-99+33300del	ENSP00000465347.1:n.-99+33287_-99+33300del
NM_007294.3:c.3547_3560del , LRG_292t1:c.3547_3560del	NP_009225.1:p.Lys1183GlnfsTer4
NM_007297.3:c.3406_3419del	NP_009228.2:p.Lys1136GlnfsTer4
NM_007298.3:c.788-952_788-939del	NP_009229.2:n.788-952_788-939del
NM_007299.3:c.788-952_788-939del	NP_009230.2:n.788-952_788-939del
NM_007300.3:c.3547_3560del	NP_009231.2:p.Lys1183GlnfsTer4
NR_027676.1:n.3683_3696del
NM_007294.4:c.3547_3560del MANE Select	NP_009225.1:p.Lys1183GlnfsTer4
NM_007297.4:c.3406_3419del	NP_009228.2:p.Lys1136GlnfsTer4
NM_007299.4:c.788-952_788-939del	NP_009230.2:n.788-952_788-939del
NM_007300.4:c.3547_3560del	NP_009231.2:p.Lys1183GlnfsTer4
NR_027676.2:n.3724_3737del