Canonical Allele Identifier: CA658684036

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 496380
• ClinVar RCV Id: RCV000587752 ; RCV001189444 ; RCV002476277
• dbSNP Id: rs397509170
• MyVariant Identifiers: chr17:g.41228593dup (hg19) ; chr17:g.43076576dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076577dup , CM000679.2:g.43076577dup	GRCh38
NC_000017.10:g.41228594dup , CM000679.1:g.41228594dup	GRCh37
NC_000017.9:g.38482120dup	NCBI36
NG_005905.2:g.141408dup , LRG_292:g.141408dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4393dup	ENSP00000417241.2:p.Ser1465LysfsTer10
ENST00000470026.6:c.4396dup	ENSP00000419274.2:p.Ser1466LysfsTer10
ENST00000473961.6:c.4270dup	ENSP00000420201.2:p.Ser1424LysfsTer10
ENST00000476777.6:c.4390dup	ENSP00000417554.2:p.Ser1464LysfsTer10
ENST00000477152.6:c.4318dup	ENSP00000419988.2:p.Ser1440LysfsTer10
ENST00000478531.6:c.1084dup	ENSP00000420412.2:p.Ser362LysfsTer10
ENST00000489037.2:c.4318dup	ENSP00000420781.2:p.Ser1440LysfsTer10
ENST00000493919.6:c.946dup	ENSP00000418819.2:p.Ser316LysfsTer10
ENST00000494123.6:c.4396dup	ENSP00000419103.2:p.Ser1466LysfsTer10
ENST00000497488.2:c.3508dup	ENSP00000418986.2:p.Ser1170LysfsTer10
ENST00000618469.2:c.4396dup	ENSP00000478114.2:p.Ser1466LysfsTer10
ENST00000634433.2:c.4273dup	ENSP00000489431.2:p.Ser1425LysfsTer10
ENST00000644379.2:c.4462dup	ENSP00000496570.2:p.Ser1488LysfsTer10
ENST00000644555.2:c.946dup	ENSP00000494614.2:p.Ser316LysfsTer10
ENST00000652672.2:c.4255dup	ENSP00000498906.2:p.Ser1419LysfsTer10
ENST00000484087.6:c.958dup	ENSP00000419481.2:p.Ser320LysfsTer10
ENST00000700182.1:c.1003dup	ENSP00000514849.1:p.Ser335LysfsTer10
ENST00000357654.9:c.4396dup MANE Select	ENSP00000350283.3:p.Ser1466LysfsTer10
ENST00000471181.7:c.4459dup	ENSP00000418960.2:p.Ser1487LysfsTer10
ENST00000644379.1:c.783dup
ENST00000352993.7:c.970dup	ENSP00000312236.5:p.Ser324LysfsTer10
ENST00000357654.7:c.4396dup	ENSP00000350283.3:p.Ser1466LysfsTer10
ENST00000461221.5:c.*4179dup	ENSP00000418548.1:n.*4179dup
ENST00000461574.1:c.687dup
ENST00000468300.5:c.1084dup	ENSP00000417148.1:p.Ser362LysfsTer10
ENST00000471181.6:c.4459dup	ENSP00000418960.2:p.Ser1487LysfsTer10
ENST00000478531.5:c.1084dup	ENSP00000420412.1:p.Ser362LysfsTer10
ENST00000484087.5:c.709dup	ENSP00000419481.1:p.Ser237LysfsTer10
ENST00000487825.5:c.712dup	ENSP00000418212.1:p.Ser238LysfsTer10
ENST00000491747.6:c.1084dup	ENSP00000420705.2:p.Ser362LysfsTer10
ENST00000493795.5:c.4255dup	ENSP00000418775.1:p.Ser1419LysfsTer10
ENST00000493919.5:c.946dup	ENSP00000418819.1:p.Ser316LysfsTer10
ENST00000586385.5:c.5-12625dup	ENSP00000465818.1:n.5-12625dup
ENST00000591534.5:c.-43-2055dup	ENSP00000467329.1:n.-43-2055dup
ENST00000591849.5:c.-98-26386dup	ENSP00000465347.1:n.-98-26386dup
ENST00000621897.1:n.287dup
NM_007294.3:c.4396dup , LRG_292t1:c.4396dup	NP_009225.1:p.Ser1466LysfsTer10
NM_007297.3:c.4255dup	NP_009228.2:p.Ser1419LysfsTer10
NM_007298.3:c.1084dup	NP_009229.2:p.Ser362LysfsTer10
NM_007299.3:c.1084dup	NP_009230.2:p.Ser362LysfsTer10
NM_007300.3:c.4459dup	NP_009231.2:p.Ser1487LysfsTer10
NR_027676.1:n.4532dup
NM_007294.4:c.4396dup MANE Select	NP_009225.1:p.Ser1466LysfsTer10
NM_007297.4:c.4255dup	NP_009228.2:p.Ser1419LysfsTer10
NM_007299.4:c.1084dup	NP_009230.2:p.Ser362LysfsTer10
NM_007300.4:c.4459dup	NP_009231.2:p.Ser1487LysfsTer10
NR_027676.2:n.4573dup