Canonical Allele Identifier: CA10589744

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266379
• ClinVar RCV Id: RCV000256900
• dbSNP Id: rs886040138
• MyVariant Identifiers: chr17:g.41244043_41244044insT (hg19) ; chr17:g.43092026_43092027insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092026_43092027insT , CM000679.2:g.43092026_43092027insT	GRCh38
NC_000017.10:g.41244043_41244044insT , CM000679.1:g.41244043_41244044insT	GRCh37
NC_000017.9:g.38497569_38497570insT	NCBI36
NG_005905.2:g.125957_125958insA , LRG_292:g.125957_125958insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3568_3569insA
ENST00000461574.2:c.3504_3505insA	ENSP00000417241.2:p.Asp1169ArgfsTer3
ENST00000470026.6:c.3504_3505insA	ENSP00000419274.2:p.Asp1169ArgfsTer3
ENST00000473961.6:c.3378_3379insA	ENSP00000420201.2:p.Asp1127ArgfsTer3
ENST00000476777.6:c.3501_3502insA	ENSP00000417554.2:p.Asp1168ArgfsTer3
ENST00000477152.6:c.3426_3427insA	ENSP00000419988.2:p.Asp1143ArgfsTer3
ENST00000478531.6:c.785-995_785-994insA	ENSP00000420412.2:n.785-995_785-994insA
ENST00000489037.2:c.3426_3427insA	ENSP00000420781.2:p.Asp1143ArgfsTer3
ENST00000493919.6:c.647-995_647-994insA	ENSP00000418819.2:n.647-995_647-994insA
ENST00000494123.6:c.3504_3505insA	ENSP00000419103.2:p.Asp1169ArgfsTer3
ENST00000497488.2:c.2616_2617insA	ENSP00000418986.2:p.Asp873ArgfsTer3
ENST00000618469.2:c.3504_3505insA	ENSP00000478114.2:p.Asp1169ArgfsTer3
ENST00000634433.2:c.3381_3382insA	ENSP00000489431.2:p.Asp1128ArgfsTer3
ENST00000644379.2:c.3504_3505insA	ENSP00000496570.2:p.Asp1169ArgfsTer3
ENST00000644555.2:c.647-995_647-994insA	ENSP00000494614.2:n.647-995_647-994insA
ENST00000652672.2:c.3363_3364insA	ENSP00000498906.2:p.Asp1122ArgfsTer3
ENST00000484087.6:c.665-995_665-994insA	ENSP00000419481.2:n.665-995_665-994insA
ENST00000700182.1:c.707-995_707-994insA	ENSP00000514849.1:n.707-995_707-994insA
ENST00000357654.9:c.3504_3505insA MANE Select	ENSP00000350283.3:p.Asp1169ArgfsTer3
ENST00000471181.7:c.3504_3505insA	ENSP00000418960.2:p.Asp1169ArgfsTer3
ENST00000352993.7:c.671-995_671-994insA	ENSP00000312236.5:n.671-995_671-994insA
ENST00000354071.7:c.3504_3505insA	ENSP00000326002.7:p.Asp1169ArgfsTer3
ENST00000357654.7:c.3504_3505insA	ENSP00000350283.3:p.Asp1169ArgfsTer3
ENST00000461221.5:c.*3287_*3288insA	ENSP00000418548.1:n.*3287_*3288insA
ENST00000468300.5:c.788-995_788-994insA	ENSP00000417148.1:n.788-995_788-994insA
ENST00000471181.6:c.3504_3505insA	ENSP00000418960.2:p.Asp1169ArgfsTer3
ENST00000478531.5:c.785-995_785-994insA	ENSP00000420412.1:n.785-995_785-994insA
ENST00000484087.5:c.410-995_410-994insA	ENSP00000419481.1:n.410-995_410-994insA
ENST00000487825.5:c.413-995_413-994insA	ENSP00000418212.1:n.413-995_413-994insA
ENST00000491747.6:c.788-995_788-994insA	ENSP00000420705.2:n.788-995_788-994insA
ENST00000493795.5:c.3363_3364insA	ENSP00000418775.1:p.Asp1122ArgfsTer3
ENST00000493919.5:c.647-995_647-994insA	ENSP00000418819.1:n.647-995_647-994insA
ENST00000586385.5:c.5-28076_5-28075insA	ENSP00000465818.1:n.5-28076_5-28075insA
ENST00000591534.5:c.-43-17506_-43-17505insA	ENSP00000467329.1:n.-43-17506_-43-17505insA
ENST00000591849.5:c.-99+33244_-99+33245insA	ENSP00000465347.1:n.-99+33244_-99+33245insA
NM_007294.3:c.3504_3505insA , LRG_292t1:c.3504_3505insA	NP_009225.1:p.Asp1169ArgfsTer3
NM_007297.3:c.3363_3364insA	NP_009228.2:p.Asp1122ArgfsTer3
NM_007298.3:c.788-995_788-994insA	NP_009229.2:n.788-995_788-994insA
NM_007299.3:c.788-995_788-994insA	NP_009230.2:n.788-995_788-994insA
NM_007300.3:c.3504_3505insA	NP_009231.2:p.Asp1169ArgfsTer3
NR_027676.1:n.3640_3641insA
NM_007294.4:c.3504_3505insA MANE Select	NP_009225.1:p.Asp1169ArgfsTer3
NM_007297.4:c.3363_3364insA	NP_009228.2:p.Asp1122ArgfsTer3
NM_007299.4:c.788-995_788-994insA	NP_009230.2:n.788-995_788-994insA
NM_007300.4:c.3504_3505insA	NP_009231.2:p.Asp1169ArgfsTer3
NR_027676.2:n.3681_3682insA