Canonical Allele Identifier: CA002481

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266412
• ClinVar RCV Id: RCV000257561
• dbSNP Id: rs397507221
• MyVariant Identifiers: chr17:g.41243696_41243697dupGT (hg19) ; chr17:g.41243695_41243696insGT (hg19) ; chr17:g.43091679_43091680dupGT (hg38) ; chr17:g.43091678_43091679insGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091680_43091681dup , CM000679.2:g.43091680_43091681dup	GRCh38
NC_000017.10:g.41243697_41243698dup , CM000679.1:g.41243697_41243698dup	GRCh37
NC_000017.9:g.38497223_38497224dup	NCBI36
NG_005905.2:g.126304_126305dup , LRG_292:g.126304_126305dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.3915_3916dup
ENST00000461574.2:c.3851_3852dup	ENSP00000417241.2:p.Leu1285ThrfsTer23
ENST00000470026.6:c.3851_3852dup	ENSP00000419274.2:p.Leu1285ThrfsTer23
ENST00000473961.6:c.3725_3726dup	ENSP00000420201.2:p.Leu1243ThrfsTer23
ENST00000476777.6:c.3848_3849dup	ENSP00000417554.2:p.Leu1284ThrfsTer23
ENST00000477152.6:c.3773_3774dup	ENSP00000419988.2:p.Leu1259ThrfsTer23
ENST00000478531.6:c.785-648_785-647dup	ENSP00000420412.2:n.785-648_785-647dup
ENST00000489037.2:c.3773_3774dup	ENSP00000420781.2:p.Leu1259ThrfsTer23
ENST00000493919.6:c.647-648_647-647dup	ENSP00000418819.2:n.647-648_647-647dup
ENST00000494123.6:c.3851_3852dup	ENSP00000419103.2:p.Leu1285ThrfsTer23
ENST00000497488.2:c.2963_2964dup	ENSP00000418986.2:p.Leu989ThrfsTer23
ENST00000618469.2:c.3851_3852dup	ENSP00000478114.2:p.Leu1285ThrfsTer23
ENST00000634433.2:c.3728_3729dup	ENSP00000489431.2:p.Leu1244ThrfsTer23
ENST00000644379.2:c.3851_3852dup	ENSP00000496570.2:p.Leu1285ThrfsTer23
ENST00000644555.2:c.647-648_647-647dup	ENSP00000494614.2:n.647-648_647-647dup
ENST00000652672.2:c.3710_3711dup	ENSP00000498906.2:p.Leu1238ThrfsTer23
ENST00000484087.6:c.665-648_665-647dup	ENSP00000419481.2:n.665-648_665-647dup
ENST00000700182.1:c.707-648_707-647dup	ENSP00000514849.1:n.707-648_707-647dup
ENST00000357654.9:c.3851_3852dup MANE Select	ENSP00000350283.3:p.Leu1285ThrfsTer23
ENST00000471181.7:c.3851_3852dup	ENSP00000418960.2:p.Leu1285ThrfsTer23
ENST00000644379.1:c.172_173dup
ENST00000352993.7:c.671-648_671-647dup	ENSP00000312236.5:n.671-648_671-647dup
ENST00000354071.7:c.3851_3852dup	ENSP00000326002.7:p.Leu1285ThrfsTer23
ENST00000357654.7:c.3851_3852dup	ENSP00000350283.3:p.Leu1285ThrfsTer23
ENST00000461221.5:c.*3634_*3635dup	ENSP00000418548.1:n.*3634_*3635dup
ENST00000461574.1:c.145_146dup
ENST00000468300.5:c.788-648_788-647dup	ENSP00000417148.1:n.788-648_788-647dup
ENST00000471181.6:c.3851_3852dup	ENSP00000418960.2:p.Leu1285ThrfsTer23
ENST00000478531.5:c.785-648_785-647dup	ENSP00000420412.1:n.785-648_785-647dup
ENST00000484087.5:c.410-648_410-647dup	ENSP00000419481.1:n.410-648_410-647dup
ENST00000487825.5:c.413-648_413-647dup	ENSP00000418212.1:n.413-648_413-647dup
ENST00000491747.6:c.788-648_788-647dup	ENSP00000420705.2:n.788-648_788-647dup
ENST00000493795.5:c.3710_3711dup	ENSP00000418775.1:p.Leu1238ThrfsTer23
ENST00000493919.5:c.647-648_647-647dup	ENSP00000418819.1:n.647-648_647-647dup
ENST00000586385.5:c.5-27729_5-27728dup	ENSP00000465818.1:n.5-27729_5-27728dup
ENST00000591534.5:c.-43-17159_-43-17158dup	ENSP00000467329.1:n.-43-17159_-43-17158du...
ENST00000591849.5:c.-99+33591_-99+33592dup	ENSP00000465347.1:n.-99+33591_-99+33592du...
NM_007294.3:c.3851_3852dup , LRG_292t1:c.3851_3852dup	NP_009225.1:p.Leu1285ThrfsTer23
NM_007297.3:c.3710_3711dup	NP_009228.2:p.Leu1238ThrfsTer23
NM_007298.3:c.788-648_788-647dup	NP_009229.2:n.788-648_788-647dup
NM_007299.3:c.788-648_788-647dup	NP_009230.2:n.788-648_788-647dup
NM_007300.3:c.3851_3852dup	NP_009231.2:p.Leu1285ThrfsTer23
NR_027676.1:n.3987_3988dup
NM_007294.4:c.3851_3852dup MANE Select	NP_009225.1:p.Leu1285ThrfsTer23
NM_007297.4:c.3710_3711dup	NP_009228.2:p.Leu1238ThrfsTer23
NM_007299.4:c.788-648_788-647dup	NP_009230.2:n.788-648_788-647dup
NM_007300.4:c.3851_3852dup	NP_009231.2:p.Leu1285ThrfsTer23
NR_027676.2:n.4028_4029dup