Canonical Allele Identifier: CA001290

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 54411
• ClinVar RCV Id: RCV000111738 ; RCV000496300
• dbSNP Id: rs80357885
• MyVariant Identifiers: chr17:g.41245596dupT (hg19) ; chr17:g.41245595_41245596insT (hg19) ; chr17:g.43093579dupT (hg38) ; chr17:g.43093578_43093579insT (hg38)
• PubMed: PMID:16287141

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093581dup , CM000679.2:g.43093581dup	GRCh38
NC_000017.10:g.41245598dup , CM000679.1:g.41245598dup	GRCh37
NC_000017.9:g.38499124dup	NCBI36
NG_005905.2:g.124405dup , LRG_292:g.124405dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.2016dup
ENST00000461574.2:c.1952dup	ENSP00000417241.2:p.Lys652GlufsTer21
ENST00000470026.6:c.1952dup	ENSP00000419274.2:p.Lys652GlufsTer21
ENST00000473961.6:c.1826dup	ENSP00000420201.2:p.Lys610GlufsTer21
ENST00000476777.6:c.1949dup	ENSP00000417554.2:p.Lys651GlufsTer21
ENST00000477152.6:c.1874dup	ENSP00000419988.2:p.Lys626GlufsTer21
ENST00000478531.6:c.784+1165dup	ENSP00000420412.2:n.784+1165dup
ENST00000489037.2:c.1874dup	ENSP00000420781.2:p.Lys626GlufsTer21
ENST00000493919.6:c.646+1165dup	ENSP00000418819.2:n.646+1165dup
ENST00000494123.6:c.1952dup	ENSP00000419103.2:p.Lys652GlufsTer21
ENST00000497488.2:c.1064dup	ENSP00000418986.2:p.Lys356GlufsTer21
ENST00000618469.2:c.1952dup	ENSP00000478114.2:p.Lys652GlufsTer21
ENST00000634433.2:c.1829dup	ENSP00000489431.2:p.Lys611GlufsTer21
ENST00000644379.2:c.1952dup	ENSP00000496570.2:p.Lys652GlufsTer21
ENST00000644555.2:c.646+1165dup	ENSP00000494614.2:n.646+1165dup
ENST00000652672.2:c.1811dup	ENSP00000498906.2:p.Lys605GlufsTer21
ENST00000484087.6:c.664+1165dup	ENSP00000419481.2:n.664+1165dup
ENST00000700182.1:c.706+1165dup	ENSP00000514849.1:n.706+1165dup
ENST00000357654.9:c.1952dup MANE Select	ENSP00000350283.3:p.Lys652GlufsTer21
ENST00000471181.7:c.1952dup	ENSP00000418960.2:p.Lys652GlufsTer21
ENST00000352993.7:c.670+2267dup	ENSP00000312236.5:n.670+2267dup
ENST00000354071.7:c.1952dup	ENSP00000326002.7:p.Lys652GlufsTer21
ENST00000357654.7:c.1952dup	ENSP00000350283.3:p.Lys652GlufsTer21
ENST00000412061.3:c.1303dup
ENST00000461221.5:c.*1735dup	ENSP00000418548.1:n.*1735dup
ENST00000468300.5:c.787+1165dup	ENSP00000417148.1:n.787+1165dup
ENST00000471181.6:c.1952dup	ENSP00000418960.2:p.Lys652GlufsTer21
ENST00000478531.5:c.784+1165dup	ENSP00000420412.1:n.784+1165dup
ENST00000484087.5:c.409+1165dup	ENSP00000419481.1:n.409+1165dup
ENST00000487825.5:c.412+1165dup	ENSP00000418212.1:n.412+1165dup
ENST00000491747.6:c.787+1165dup	ENSP00000420705.2:n.787+1165dup
ENST00000493795.5:c.1811dup	ENSP00000418775.1:p.Lys605GlufsTer21
ENST00000493919.5:c.646+1165dup	ENSP00000418819.1:n.646+1165dup
ENST00000586385.5:c.5-29628dup	ENSP00000465818.1:n.5-29628dup
ENST00000591534.5:c.-43-19058dup	ENSP00000467329.1:n.-43-19058dup
ENST00000591849.5:c.-99+31692dup	ENSP00000465347.1:n.-99+31692dup
ENST00000634433.1:c.1829dup	ENSP00000489431.1:p.Lys611GlufsTer21
NM_007294.3:c.1952dup , LRG_292t1:c.1952dup	NP_009225.1:p.Lys652GlufsTer21
NM_007297.3:c.1811dup	NP_009228.2:p.Lys605GlufsTer21
NM_007298.3:c.787+1165dup	NP_009229.2:n.787+1165dup
NM_007299.3:c.787+1165dup	NP_009230.2:n.787+1165dup
NM_007300.3:c.1952dup	NP_009231.2:p.Lys652GlufsTer21
NR_027676.1:n.2088dup
NM_007294.4:c.1952dup MANE Select	NP_009225.1:p.Lys652GlufsTer21
NM_007297.4:c.1811dup	NP_009228.2:p.Lys605GlufsTer21
NM_007299.4:c.787+1165dup	NP_009230.2:n.787+1165dup
NM_007300.4:c.1952dup	NP_009231.2:p.Lys652GlufsTer21
NR_027676.2:n.2129dup