Canonical Allele Identifier: CA10584567

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 245696
• ClinVar RCV Id: RCV000235313 ; RCV000589265 ; RCV000661284
• dbSNP Id: rs80357549
• MyVariant Identifiers: chr17:g.41244854_41244855dupTT (hg19) ; chr17:g.41244853_41244854insTT (hg19) ; chr17:g.43092837_43092838dupTT (hg38) ; chr17:g.43092836_43092837insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092839_43092840dup , CM000679.2:g.43092839_43092840dup	GRCh38
NC_000017.10:g.41244856_41244857dup , CM000679.1:g.41244856_41244857dup	GRCh37
NC_000017.9:g.38498382_38498383dup	NCBI36
NG_005905.2:g.125146_125147dup , LRG_292:g.125146_125147dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.2757_2758dup
ENST00000461574.2:c.2693_2694dup	ENSP00000417241.2:p.Val899LysfsTer?
ENST00000470026.6:c.2693_2694dup	ENSP00000419274.2:p.Val899LysfsTer?
ENST00000473961.6:c.2567_2568dup	ENSP00000420201.2:p.Val857LysfsTer?
ENST00000476777.6:c.2690_2691dup	ENSP00000417554.2:p.Val898LysfsTer?
ENST00000477152.6:c.2615_2616dup	ENSP00000419988.2:p.Val873LysfsTer?
ENST00000478531.6:c.785-1806_785-1805dup	ENSP00000420412.2:n.785-1806_785-1805dup
ENST00000489037.2:c.2615_2616dup	ENSP00000420781.2:p.Val873LysfsTer?
ENST00000493919.6:c.647-1806_647-1805dup	ENSP00000418819.2:n.647-1806_647-1805dup
ENST00000494123.6:c.2693_2694dup	ENSP00000419103.2:p.Val899LysfsTer?
ENST00000497488.2:c.1805_1806dup	ENSP00000418986.2:p.Val603LysfsTer?
ENST00000618469.2:c.2693_2694dup	ENSP00000478114.2:p.Val899LysfsTer?
ENST00000634433.2:c.2570_2571dup	ENSP00000489431.2:p.Val858LysfsTer?
ENST00000644379.2:c.2693_2694dup	ENSP00000496570.2:p.Val899LysfsTer?
ENST00000644555.2:c.647-1806_647-1805dup	ENSP00000494614.2:n.647-1806_647-1805dup
ENST00000652672.2:c.2552_2553dup	ENSP00000498906.2:p.Val852LysfsTer?
ENST00000484087.6:c.665-1806_665-1805dup	ENSP00000419481.2:n.665-1806_665-1805dup
ENST00000700182.1:c.707-1806_707-1805dup	ENSP00000514849.1:n.707-1806_707-1805dup
ENST00000357654.9:c.2693_2694dup MANE Select	ENSP00000350283.3:p.Val899LysfsTer?
ENST00000471181.7:c.2693_2694dup	ENSP00000418960.2:p.Val899LysfsTer?
ENST00000352993.7:c.671-1806_671-1805dup	ENSP00000312236.5:n.671-1806_671-1805dup
ENST00000354071.7:c.2693_2694dup	ENSP00000326002.7:p.Val899LysfsTer?
ENST00000357654.7:c.2693_2694dup	ENSP00000350283.3:p.Val899LysfsTer?
ENST00000461221.5:c.*2476_*2477dup	ENSP00000418548.1:n.*2476_*2477dup
ENST00000468300.5:c.788-1806_788-1805dup	ENSP00000417148.1:n.788-1806_788-1805dup
ENST00000471181.6:c.2693_2694dup	ENSP00000418960.2:p.Val899LysfsTer?
ENST00000478531.5:c.785-1806_785-1805dup	ENSP00000420412.1:n.785-1806_785-1805dup
ENST00000484087.5:c.410-1806_410-1805dup	ENSP00000419481.1:n.410-1806_410-1805dup
ENST00000487825.5:c.413-1806_413-1805dup	ENSP00000418212.1:n.413-1806_413-1805dup
ENST00000491747.6:c.788-1806_788-1805dup	ENSP00000420705.2:n.788-1806_788-1805dup
ENST00000493795.5:c.2552_2553dup	ENSP00000418775.1:p.Val852LysfsTer?
ENST00000493919.5:c.647-1806_647-1805dup	ENSP00000418819.1:n.647-1806_647-1805dup
ENST00000586385.5:c.5-28887_5-28886dup	ENSP00000465818.1:n.5-28887_5-28886dup
ENST00000591534.5:c.-43-18317_-43-18316dup	ENSP00000467329.1:n.-43-18317_-43-18316du...
ENST00000591849.5:c.-99+32433_-99+32434dup	ENSP00000465347.1:n.-99+32433_-99+32434du...
NM_007294.3:c.2693_2694dup , LRG_292t1:c.2693_2694dup	NP_009225.1:p.Val899LysfsTer?
NM_007297.3:c.2552_2553dup	NP_009228.2:p.Val852LysfsTer?
NM_007298.3:c.788-1806_788-1805dup	NP_009229.2:n.788-1806_788-1805dup
NM_007299.3:c.788-1806_788-1805dup	NP_009230.2:n.788-1806_788-1805dup
NM_007300.3:c.2693_2694dup	NP_009231.2:p.Val899LysfsTer?
NR_027676.1:n.2829_2830dup
NM_007294.4:c.2693_2694dup MANE Select	NP_009225.1:p.Val899LysfsTer?
NM_007297.4:c.2552_2553dup	NP_009228.2:p.Val852LysfsTer?
NM_007299.4:c.788-1806_788-1805dup	NP_009230.2:n.788-1806_788-1805dup
NM_007300.4:c.2693_2694dup	NP_009231.2:p.Val899LysfsTer?
NR_027676.2:n.2870_2871dup