Canonical Allele Identifier: CA645509518

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 438910
• ClinVar RCV Id: RCV000507651 ; RCV000509706 ; RCV000661213
• dbSNP Id: rs1555592219
• MyVariant Identifiers: chr17:g.41246343dup (hg19) ; chr17:g.43094326dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094326dup , CM000679.2:g.43094326dup	GRCh38
NC_000017.10:g.41246343dup , CM000679.1:g.41246343dup	GRCh37
NC_000017.9:g.38499869dup	NCBI36
NG_005905.2:g.123658dup , LRG_292:g.123658dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.1269dup
ENST00000461574.2:c.1205dup	ENSP00000417241.2:p.Ser403ValfsTer2
ENST00000470026.6:c.1205dup	ENSP00000419274.2:p.Ser403ValfsTer2
ENST00000473961.6:c.1079dup	ENSP00000420201.2:p.Ser361ValfsTer2
ENST00000476777.6:c.1202dup	ENSP00000417554.2:p.Ser402ValfsTer2
ENST00000477152.6:c.1127dup	ENSP00000419988.2:p.Ser377ValfsTer2
ENST00000478531.6:c.784+418dup	ENSP00000420412.2:n.784+418dup
ENST00000489037.2:c.1127dup	ENSP00000420781.2:p.Ser377ValfsTer2
ENST00000493919.6:c.646+418dup	ENSP00000418819.2:n.646+418dup
ENST00000494123.6:c.1205dup	ENSP00000419103.2:p.Ser403ValfsTer2
ENST00000497488.2:c.317dup	ENSP00000418986.2:p.Ser107ValfsTer2
ENST00000618469.2:c.1205dup	ENSP00000478114.2:p.Ser403ValfsTer2
ENST00000634433.2:c.1082dup	ENSP00000489431.2:p.Ser362ValfsTer2
ENST00000644379.2:c.1205dup	ENSP00000496570.2:p.Ser403ValfsTer2
ENST00000644555.2:c.646+418dup	ENSP00000494614.2:n.646+418dup
ENST00000652672.2:c.1064dup	ENSP00000498906.2:p.Ser356ValfsTer2
ENST00000484087.6:c.664+418dup	ENSP00000419481.2:n.664+418dup
ENST00000700182.1:c.706+418dup	ENSP00000514849.1:n.706+418dup
ENST00000700183.1:c.*1213dup	ENSP00000514850.1:n.*1213dup
ENST00000357654.9:c.1205dup MANE Select	ENSP00000350283.3:p.Ser403ValfsTer2
ENST00000471181.7:c.1205dup	ENSP00000418960.2:p.Ser403ValfsTer2
ENST00000652672.1:c.1064dup	ENSP00000498906.1:p.Ser356ValfsTer2
ENST00000352993.7:c.670+1520dup	ENSP00000312236.5:n.670+1520dup
ENST00000354071.7:c.1205dup	ENSP00000326002.7:p.Ser403ValfsTer2
ENST00000357654.7:c.1205dup	ENSP00000350283.3:p.Ser403ValfsTer2
ENST00000412061.3:c.556dup
ENST00000461221.5:c.*988dup	ENSP00000418548.1:n.*988dup
ENST00000468300.5:c.787+418dup	ENSP00000417148.1:n.787+418dup
ENST00000470026.5:c.1205dup	ENSP00000419274.1:p.Ser403ValfsTer2
ENST00000471181.6:c.1205dup	ENSP00000418960.2:p.Ser403ValfsTer2
ENST00000473961.5:c.802dup
ENST00000477152.5:c.1127dup	ENSP00000419988.1:p.Ser377ValfsTer2
ENST00000478531.5:c.784+418dup	ENSP00000420412.1:n.784+418dup
ENST00000484087.5:c.409+418dup	ENSP00000419481.1:n.409+418dup
ENST00000487825.5:c.412+418dup	ENSP00000418212.1:n.412+418dup
ENST00000491747.6:c.787+418dup	ENSP00000420705.2:n.787+418dup
ENST00000492859.5:c.*1141dup	ENSP00000420253.1:n.*1141dup
ENST00000493795.5:c.1064dup	ENSP00000418775.1:p.Ser356ValfsTer2
ENST00000493919.5:c.646+418dup	ENSP00000418819.1:n.646+418dup
ENST00000494123.5:c.1205dup	ENSP00000419103.1:p.Ser403ValfsTer2
ENST00000497488.1:c.317dup	ENSP00000418986.1:p.Ser107ValfsTer2
ENST00000586385.5:c.5-30375dup	ENSP00000465818.1:n.5-30375dup
ENST00000591534.5:c.-43-19805dup	ENSP00000467329.1:n.-43-19805dup
ENST00000591849.5:c.-99+30945dup	ENSP00000465347.1:n.-99+30945dup
ENST00000634433.1:c.1082dup	ENSP00000489431.1:p.Ser362ValfsTer2
NM_007294.3:c.1205dup , LRG_292t1:c.1205dup	NP_009225.1:p.Ser403ValfsTer2
NM_007297.3:c.1064dup	NP_009228.2:p.Ser356ValfsTer2
NM_007298.3:c.787+418dup	NP_009229.2:n.787+418dup
NM_007299.3:c.787+418dup	NP_009230.2:n.787+418dup
NM_007300.3:c.1205dup	NP_009231.2:p.Ser403ValfsTer2
NR_027676.1:n.1341dup
NM_007294.4:c.1205dup MANE Select	NP_009225.1:p.Ser403ValfsTer2
NM_007297.4:c.1064dup	NP_009228.2:p.Ser356ValfsTer2
NM_007299.4:c.787+418dup	NP_009230.2:n.787+418dup
NM_007300.4:c.1205dup	NP_009231.2:p.Ser403ValfsTer2
NR_027676.2:n.1382dup