Canonical Allele Identifier: CA645373166

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 548269
• ClinVar RCV Id: RCV000496908 ; RCV000661229
• dbSNP Id: rs1555582670
• MyVariant Identifiers: chr17:g.41228595dup (hg19) ; chr17:g.43076578dup (hg38) ; chr17:g.43076578_43076579insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076578dup , CM000679.2:g.43076578dup	GRCh38
NC_000017.10:g.41228595dup , CM000679.1:g.41228595dup	GRCh37
NC_000017.9:g.38482121dup	NCBI36
NG_005905.2:g.141406dup , LRG_292:g.141406dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4391dup	ENSP00000417241.2:p.Ser1465LysfsTer10
ENST00000470026.6:c.4394dup	ENSP00000419274.2:p.Ser1466LysfsTer10
ENST00000473961.6:c.4268dup	ENSP00000420201.2:p.Ser1424LysfsTer10
ENST00000476777.6:c.4388dup	ENSP00000417554.2:p.Ser1464LysfsTer10
ENST00000477152.6:c.4316dup	ENSP00000419988.2:p.Ser1440LysfsTer10
ENST00000478531.6:c.1082dup	ENSP00000420412.2:p.Ser362LysfsTer10
ENST00000489037.2:c.4316dup	ENSP00000420781.2:p.Ser1440LysfsTer10
ENST00000493919.6:c.944dup	ENSP00000418819.2:p.Ser316LysfsTer10
ENST00000494123.6:c.4394dup	ENSP00000419103.2:p.Ser1466LysfsTer10
ENST00000497488.2:c.3506dup	ENSP00000418986.2:p.Ser1170LysfsTer10
ENST00000618469.2:c.4394dup	ENSP00000478114.2:p.Ser1466LysfsTer10
ENST00000634433.2:c.4271dup	ENSP00000489431.2:p.Ser1425LysfsTer10
ENST00000644379.2:c.4460dup	ENSP00000496570.2:p.Ser1488LysfsTer10
ENST00000644555.2:c.944dup	ENSP00000494614.2:p.Ser316LysfsTer10
ENST00000652672.2:c.4253dup	ENSP00000498906.2:p.Ser1419LysfsTer10
ENST00000484087.6:c.956dup	ENSP00000419481.2:p.Ser320LysfsTer10
ENST00000700182.1:c.1001dup	ENSP00000514849.1:p.Ser335LysfsTer10
ENST00000357654.9:c.4394dup MANE Select	ENSP00000350283.3:p.Ser1466LysfsTer10
ENST00000471181.7:c.4457dup	ENSP00000418960.2:p.Ser1487LysfsTer10
ENST00000644379.1:c.781dup
ENST00000352993.7:c.968dup	ENSP00000312236.5:p.Ser324LysfsTer10
ENST00000357654.7:c.4394dup	ENSP00000350283.3:p.Ser1466LysfsTer10
ENST00000461221.5:c.*4177dup	ENSP00000418548.1:n.*4177dup
ENST00000461574.1:c.685dup
ENST00000468300.5:c.1082dup	ENSP00000417148.1:p.Ser362LysfsTer10
ENST00000471181.6:c.4457dup	ENSP00000418960.2:p.Ser1487LysfsTer10
ENST00000478531.5:c.1082dup	ENSP00000420412.1:p.Ser362LysfsTer10
ENST00000484087.5:c.707dup	ENSP00000419481.1:p.Ser237LysfsTer10
ENST00000487825.5:c.710dup	ENSP00000418212.1:p.Ser238LysfsTer10
ENST00000491747.6:c.1082dup	ENSP00000420705.2:p.Ser362LysfsTer10
ENST00000493795.5:c.4253dup	ENSP00000418775.1:p.Ser1419LysfsTer10
ENST00000493919.5:c.944dup	ENSP00000418819.1:p.Ser316LysfsTer10
ENST00000586385.5:c.5-12627dup	ENSP00000465818.1:n.5-12627dup
ENST00000591534.5:c.-43-2057dup	ENSP00000467329.1:n.-43-2057dup
ENST00000591849.5:c.-98-26388dup	ENSP00000465347.1:n.-98-26388dup
ENST00000621897.1:n.285dup
NM_007294.3:c.4394dup , LRG_292t1:c.4394dup	NP_009225.1:p.Ser1466LysfsTer10
NM_007297.3:c.4253dup	NP_009228.2:p.Ser1419LysfsTer10
NM_007298.3:c.1082dup	NP_009229.2:p.Ser362LysfsTer10
NM_007299.3:c.1082dup	NP_009230.2:p.Ser362LysfsTer10
NM_007300.3:c.4457dup	NP_009231.2:p.Ser1487LysfsTer10
NR_027676.1:n.4530dup
NM_007294.4:c.4394dup MANE Select	NP_009225.1:p.Ser1466LysfsTer10
NM_007297.4:c.4253dup	NP_009228.2:p.Ser1419LysfsTer10
NM_007299.4:c.1082dup	NP_009230.2:p.Ser362LysfsTer10
NM_007300.4:c.4457dup	NP_009231.2:p.Ser1487LysfsTer10
NR_027676.2:n.4571dup