Canonical Allele Identifier: CA002277

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 54919
• ClinVar RCV Id: RCV000577323
• dbSNP Id: rs397509082
• MyVariant Identifiers: chr17:g.41243972_41243973insTT (hg19) ; chr17:g.43091955_43091956insTT (hg38)
• PubMed: PMID:17557253

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091955_43091956insTT , CM000679.2:g.43091955_43091956insTT	GRCh38
NC_000017.10:g.41243972_41243973insTT , CM000679.1:g.41243972_41243973insTT	GRCh37
NC_000017.9:g.38497498_38497499insTT	NCBI36
NG_005905.2:g.126028_126029insAA , LRG_292:g.126028_126029insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3639_3640insAA
ENST00000461574.2:c.3575_3576insAA	ENSP00000417241.2:p.Phe1193IlefsTer18
ENST00000470026.6:c.3575_3576insAA	ENSP00000419274.2:p.Phe1193IlefsTer18
ENST00000473961.6:c.3449_3450insAA	ENSP00000420201.2:p.Phe1151IlefsTer18
ENST00000476777.6:c.3572_3573insAA	ENSP00000417554.2:p.Phe1192IlefsTer18
ENST00000477152.6:c.3497_3498insAA	ENSP00000419988.2:p.Phe1167IlefsTer18
ENST00000478531.6:c.785-924_785-923insAA	ENSP00000420412.2:n.785-924_785-923insAA
ENST00000489037.2:c.3497_3498insAA	ENSP00000420781.2:p.Phe1167IlefsTer18
ENST00000493919.6:c.647-924_647-923insAA	ENSP00000418819.2:n.647-924_647-923insAA
ENST00000494123.6:c.3575_3576insAA	ENSP00000419103.2:p.Phe1193IlefsTer18
ENST00000497488.2:c.2687_2688insAA	ENSP00000418986.2:p.Phe897IlefsTer18
ENST00000618469.2:c.3575_3576insAA	ENSP00000478114.2:p.Phe1193IlefsTer18
ENST00000634433.2:c.3452_3453insAA	ENSP00000489431.2:p.Phe1152IlefsTer18
ENST00000644379.2:c.3575_3576insAA	ENSP00000496570.2:p.Phe1193IlefsTer18
ENST00000644555.2:c.647-924_647-923insAA	ENSP00000494614.2:n.647-924_647-923insAA
ENST00000652672.2:c.3434_3435insAA	ENSP00000498906.2:p.Phe1146IlefsTer18
ENST00000484087.6:c.665-924_665-923insAA	ENSP00000419481.2:n.665-924_665-923insAA
ENST00000700182.1:c.707-924_707-923insAA	ENSP00000514849.1:n.707-924_707-923insAA
ENST00000357654.9:c.3575_3576insAA MANE Select	ENSP00000350283.3:p.Phe1193IlefsTer18
ENST00000471181.7:c.3575_3576insAA	ENSP00000418960.2:p.Phe1193IlefsTer18
ENST00000352993.7:c.671-924_671-923insAA	ENSP00000312236.5:n.671-924_671-923insAA
ENST00000354071.7:c.3575_3576insAA	ENSP00000326002.7:p.Phe1193IlefsTer18
ENST00000357654.7:c.3575_3576insAA	ENSP00000350283.3:p.Phe1193IlefsTer18
ENST00000461221.5:c.*3358_*3359insAA	ENSP00000418548.1:n.*3358_*3359insAA
ENST00000468300.5:c.788-924_788-923insAA	ENSP00000417148.1:n.788-924_788-923insAA
ENST00000471181.6:c.3575_3576insAA	ENSP00000418960.2:p.Phe1193IlefsTer18
ENST00000478531.5:c.785-924_785-923insAA	ENSP00000420412.1:n.785-924_785-923insAA
ENST00000484087.5:c.410-924_410-923insAA	ENSP00000419481.1:n.410-924_410-923insAA
ENST00000487825.5:c.413-924_413-923insAA	ENSP00000418212.1:n.413-924_413-923insAA
ENST00000491747.6:c.788-924_788-923insAA	ENSP00000420705.2:n.788-924_788-923insAA
ENST00000493795.5:c.3434_3435insAA	ENSP00000418775.1:p.Phe1146IlefsTer18
ENST00000493919.5:c.647-924_647-923insAA	ENSP00000418819.1:n.647-924_647-923insAA
ENST00000586385.5:c.5-28005_5-28004insAA	ENSP00000465818.1:n.5-28005_5-28004insAA
ENST00000591534.5:c.-43-17435_-43-17434insAA	ENSP00000467329.1:n.-43-17435_-43-17434insAA
ENST00000591849.5:c.-99+33315_-99+33316insAA	ENSP00000465347.1:n.-99+33315_-99+33316insAA
NM_007294.3:c.3575_3576insAA , LRG_292t1:c.3575_3576insAA	NP_009225.1:p.Phe1193IlefsTer18
NM_007297.3:c.3434_3435insAA	NP_009228.2:p.Phe1146IlefsTer18
NM_007298.3:c.788-924_788-923insAA	NP_009229.2:n.788-924_788-923insAA
NM_007299.3:c.788-924_788-923insAA	NP_009230.2:n.788-924_788-923insAA
NM_007300.3:c.3575_3576insAA	NP_009231.2:p.Phe1193IlefsTer18
NR_027676.1:n.3711_3712insAA
NM_007294.4:c.3575_3576insAA MANE Select	NP_009225.1:p.Phe1193IlefsTer18
NM_007297.4:c.3434_3435insAA	NP_009228.2:p.Phe1146IlefsTer18
NM_007299.4:c.788-924_788-923insAA	NP_009230.2:n.788-924_788-923insAA
NM_007300.4:c.3575_3576insAA	NP_009231.2:p.Phe1193IlefsTer18
NR_027676.2:n.3752_3753insAA