Canonical Allele Identifier: CA10589669

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266470
• ClinVar RCV Id: RCV000256698
• dbSNP Id: rs886040225
• MyVariant Identifiers: chr17:g.41234436dupT (hg19) ; chr17:g.41234435_41234436insT (hg19) ; chr17:g.43082419dupT (hg38) ; chr17:g.43082418_43082419insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082421dup , CM000679.2:g.43082421dup	GRCh38
NC_000017.10:g.41234438dup , CM000679.1:g.41234438dup	GRCh37
NC_000017.9:g.38487964dup	NCBI36
NG_005905.2:g.135565dup , LRG_292:g.135565dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4342dup	ENSP00000417241.2:p.Ser1448LysfsTer13
ENST00000470026.6:c.4342dup	ENSP00000419274.2:p.Ser1448LysfsTer14
ENST00000473961.6:c.4216dup	ENSP00000420201.2:p.Ser1406LysfsTer14
ENST00000476777.6:c.4336dup	ENSP00000417554.2:p.Ser1446LysfsTer14
ENST00000477152.6:c.4264dup	ENSP00000419988.2:p.Ser1422LysfsTer14
ENST00000478531.6:c.1030dup	ENSP00000420412.2:p.Ser344LysfsTer14
ENST00000489037.2:c.4264dup	ENSP00000420781.2:p.Ser1422LysfsTer14
ENST00000493919.6:c.892dup	ENSP00000418819.2:p.Ser298LysfsTer14
ENST00000494123.6:c.4342dup	ENSP00000419103.2:p.Ser1448LysfsTer14
ENST00000497488.2:c.3454dup	ENSP00000418986.2:p.Ser1152LysfsTer14
ENST00000618469.2:c.4342dup	ENSP00000478114.2:p.Ser1448LysfsTer14
ENST00000634433.2:c.4219dup	ENSP00000489431.2:p.Ser1407LysfsTer14
ENST00000644379.2:c.4342dup	ENSP00000496570.2:p.Ser1448LysfsTer20
ENST00000644555.2:c.892dup	ENSP00000494614.2:p.Ser298LysfsTer14
ENST00000652672.2:c.4201dup	ENSP00000498906.2:p.Ser1401LysfsTer14
ENST00000484087.6:c.907dup	ENSP00000419481.2:p.Ser303LysfsTer13
ENST00000700182.1:c.952dup	ENSP00000514849.1:p.Ser318LysfsTer13
ENST00000357654.9:c.4342dup MANE Select	ENSP00000350283.3:p.Ser1448LysfsTer14
ENST00000471181.7:c.4342dup	ENSP00000418960.2:p.Ser1448LysfsTer20
ENST00000644379.1:c.663dup
ENST00000352993.7:c.916dup	ENSP00000312236.5:p.Ser306LysfsTer14
ENST00000357654.7:c.4342dup	ENSP00000350283.3:p.Ser1448LysfsTer14
ENST00000461221.5:c.*4125dup	ENSP00000418548.1:n.*4125dup
ENST00000461574.1:c.636dup
ENST00000468300.5:c.1033dup	ENSP00000417148.1:p.Ser345LysfsTer13
ENST00000471181.6:c.4342dup	ENSP00000418960.2:p.Ser1448LysfsTer20
ENST00000478531.5:c.1030dup	ENSP00000420412.1:p.Ser344LysfsTer14
ENST00000484087.5:c.655dup	ENSP00000419481.1:p.Ser219LysfsTer14
ENST00000487825.5:c.658dup	ENSP00000418212.1:p.Ser220LysfsTer14
ENST00000491747.6:c.1033dup	ENSP00000420705.2:p.Ser345LysfsTer13
ENST00000493795.5:c.4201dup	ENSP00000418775.1:p.Ser1401LysfsTer14
ENST00000493919.5:c.892dup	ENSP00000418819.1:p.Ser298LysfsTer14
ENST00000586385.5:c.5-18468dup	ENSP00000465818.1:n.5-18468dup
ENST00000591534.5:c.-43-7898dup	ENSP00000467329.1:n.-43-7898dup
ENST00000591849.5:c.-98-32229dup	ENSP00000465347.1:n.-98-32229dup
ENST00000621897.1:n.236dup
NM_007294.3:c.4342dup , LRG_292t1:c.4342dup	NP_009225.1:p.Ser1448LysfsTer14
NM_007297.3:c.4201dup	NP_009228.2:p.Ser1401LysfsTer14
NM_007298.3:c.1033dup	NP_009229.2:p.Ser345LysfsTer13
NM_007299.3:c.1033dup	NP_009230.2:p.Ser345LysfsTer13
NM_007300.3:c.4342dup	NP_009231.2:p.Ser1448LysfsTer20
NR_027676.1:n.4478dup
NM_007294.4:c.4342dup MANE Select	NP_009225.1:p.Ser1448LysfsTer14
NM_007297.4:c.4201dup	NP_009228.2:p.Ser1401LysfsTer14
NM_007299.4:c.1033dup	NP_009230.2:p.Ser345LysfsTer13
NM_007300.4:c.4342dup	NP_009231.2:p.Ser1448LysfsTer20
NR_027676.2:n.4519dup