Canonical Allele Identifier: CA327956

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55357
• ClinVar RCV Id: RCV000241011
• dbSNP Id: rs397509217
• MyVariant Identifiers: chr17:g.41219672dupA (hg19) ; chr17:g.41219671_41219672insA (hg19) ; chr17:g.43067655dupA (hg38) ; chr17:g.43067654_43067655insA (hg38)
• PubMed: PMID:16683254

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067657dup , CM000679.2:g.43067657dup	GRCh38
NC_000017.10:g.41219674dup , CM000679.1:g.41219674dup	GRCh37
NC_000017.9:g.38473200dup	NCBI36
NG_005905.2:g.150329dup , LRG_292:g.150329dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5024dup	ENSP00000417241.2:p.Leu1675PhefsTer3
ENST00000470026.6:c.5027dup	ENSP00000419274.2:p.Leu1676PhefsTer3
ENST00000473961.6:c.4901dup	ENSP00000420201.2:p.Leu1634PhefsTer3
ENST00000476777.6:c.5021dup	ENSP00000417554.2:p.Leu1674PhefsTer3
ENST00000477152.6:c.4949dup	ENSP00000419988.2:p.Leu1650PhefsTer3
ENST00000478531.6:c.1715dup	ENSP00000420412.2:p.Leu572PhefsTer3
ENST00000489037.2:c.4949dup	ENSP00000420781.2:p.Leu1650PhefsTer3
ENST00000493919.6:c.1577dup	ENSP00000418819.2:p.Leu526PhefsTer3
ENST00000494123.6:c.5027dup	ENSP00000419103.2:p.Leu1676PhefsTer3
ENST00000497488.2:c.4139dup	ENSP00000418986.2:p.Leu1380PhefsTer3
ENST00000618469.2:c.5027dup	ENSP00000478114.2:p.Leu1676PhefsTer3
ENST00000634433.2:c.4904dup	ENSP00000489431.2:p.Leu1635PhefsTer3
ENST00000644379.2:c.5093dup	ENSP00000496570.2:p.Leu1698PhefsTer3
ENST00000644555.2:c.1577dup	ENSP00000494614.2:p.Leu526PhefsTer3
ENST00000652672.2:c.4886dup	ENSP00000498906.2:p.Leu1629PhefsTer3
ENST00000484087.6:c.1589dup	ENSP00000419481.2:p.Leu530PhefsTer3
ENST00000357654.9:c.5027dup MANE Select	ENSP00000350283.3:p.Leu1676PhefsTer3
ENST00000471181.7:c.5090dup	ENSP00000418960.2:p.Leu1697PhefsTer3
ENST00000644379.1:c.1414dup
ENST00000352993.7:c.1601dup	ENSP00000312236.5:p.Leu534PhefsTer3
ENST00000357654.7:c.5027dup	ENSP00000350283.3:p.Leu1676PhefsTer3
ENST00000461221.5:c.*4810dup	ENSP00000418548.1:n.*4810dup
ENST00000468300.5:c.1715dup	ENSP00000417148.1:p.Leu572PhefsTer3
ENST00000471181.6:c.5090dup	ENSP00000418960.2:p.Leu1697PhefsTer3
ENST00000472490.1:n.180dup
ENST00000478531.5:c.1715dup	ENSP00000420412.1:p.Leu572PhefsTer3
ENST00000484087.5:c.1340dup	ENSP00000419481.1:p.Leu447PhefsTer3
ENST00000491747.6:c.1715dup	ENSP00000420705.2:p.Leu572PhefsTer3
ENST00000493795.5:c.4886dup	ENSP00000418775.1:p.Leu1629PhefsTer3
ENST00000493919.5:c.1577dup	ENSP00000418819.1:p.Leu526PhefsTer3
ENST00000586385.5:c.5-3704dup	ENSP00000465818.1:n.5-3704dup
ENST00000591534.5:c.500dup	ENSP00000467329.1:p.Leu167PhefsTer3
ENST00000591849.5:c.-98-17465dup	ENSP00000465347.1:n.-98-17465dup
NM_007294.3:c.5027dup , LRG_292t1:c.5027dup	NP_009225.1:p.Leu1676PhefsTer3
NM_007297.3:c.4886dup	NP_009228.2:p.Leu1629PhefsTer3
NM_007298.3:c.1715dup	NP_009229.2:p.Leu572PhefsTer3
NM_007299.3:c.1715dup	NP_009230.2:p.Leu572PhefsTer3
NM_007300.3:c.5090dup	NP_009231.2:p.Leu1697PhefsTer3
NR_027676.1:n.5163dup
NM_007294.4:c.5027dup MANE Select	NP_009225.1:p.Leu1676PhefsTer3
NM_007297.4:c.4886dup	NP_009228.2:p.Leu1629PhefsTer3
NM_007299.4:c.1715dup	NP_009230.2:p.Leu572PhefsTer3
NM_007300.4:c.5090dup	NP_009231.2:p.Leu1697PhefsTer3
NR_027676.2:n.5204dup