Canonical Allele Identifier: CA290823254

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 433729
• ClinVar RCV Id: RCV001518145 ; RCV001799671
• dbSNP Id: rs572766355
• gnomAD v2: 17-41209009-G-GGGAGTGGAATAC
• gnomAD v3: 17-43056992-G-GGGAGTGGAATAC
• gnomAD v4: 17-43056992-G-GGGAGTGGAATAC
• MyVariant Identifiers: chr17:g.41209010_41209021dup (hg19) ; chr17:g.41209009_41209010insGGAGTGGAATAC (hg19) ; chr17:g.43056993_43057004dup (hg38) ; chr17:g.43056992_43056993insGGAGTGGAATAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43056993_43057004dup , CM000679.2:g.43056993_43057004dup	GRCh38
NC_000017.10:g.41209010_41209021dup , CM000679.1:g.41209010_41209021dup	GRCh37
NC_000017.9:g.38462536_38462547dup	NCBI36
NG_005905.2:g.160980_160991dup , LRG_292:g.160980_160991dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5274+48_5274+59dup	ENSP00000417241.2:n.5274+48_5274+59dup
ENST00000470026.6:c.5277+48_5277+59dup	ENSP00000419274.2:n.5277+48_5277+59dup
ENST00000473961.6:c.5151+48_5151+59dup	ENSP00000420201.2:n.5151+48_5151+59dup
ENST00000476777.6:c.5271+48_5271+59dup	ENSP00000417554.2:n.5271+48_5271+59dup
ENST00000477152.6:c.5199+48_5199+59dup	ENSP00000419988.2:n.5199+48_5199+59dup
ENST00000478531.6:c.1965+48_1965+59dup	ENSP00000420412.2:n.1965+48_1965+59dup
ENST00000489037.2:c.5199+48_5199+59dup	ENSP00000420781.2:n.5199+48_5199+59dup
ENST00000493919.6:c.1827+48_1827+59dup	ENSP00000418819.2:n.1827+48_1827+59dup
ENST00000494123.6:c.5277+48_5277+59dup	ENSP00000419103.2:n.5277+48_5277+59dup
ENST00000497488.2:c.4389+48_4389+59dup	ENSP00000418986.2:n.4389+48_4389+59dup
ENST00000618469.2:c.5277+48_5277+59dup	ENSP00000478114.2:n.5277+48_5277+59dup
ENST00000634433.2:c.5154+48_5154+59dup	ENSP00000489431.2:n.5154+48_5154+59dup
ENST00000644379.2:c.5343+48_5343+59dup	ENSP00000496570.2:n.5343+48_5343+59dup
ENST00000644555.2:c.1827+48_1827+59dup	ENSP00000494614.2:n.1827+48_1827+59dup
ENST00000652672.2:c.5136+48_5136+59dup	ENSP00000498906.2:n.5136+48_5136+59dup
ENST00000484087.6:c.1839+48_1839+59dup	ENSP00000419481.2:n.1839+48_1839+59dup
ENST00000357654.9:c.5277+48_5277+59dup MANE Select	ENSP00000350283.3:n.5277+48_5277+59dup
ENST00000471181.7:c.5340+48_5340+59dup	ENSP00000418960.2:n.5340+48_5340+59dup
ENST00000644379.1:c.1664+48_1664+59dup
ENST00000352993.7:c.1851+48_1851+59dup	ENSP00000312236.5:n.1851+48_1851+59dup
ENST00000357654.7:c.5277+48_5277+59dup	ENSP00000350283.3:n.5277+48_5277+59dup
ENST00000461221.5:c.*5060+48_*5060+59dup	ENSP00000418548.1:n.*5060+48_*5060+59dup
ENST00000468300.5:c.1965+48_1965+59dup	ENSP00000417148.1:n.1965+48_1965+59dup
ENST00000471181.6:c.5340+48_5340+59dup	ENSP00000418960.2:n.5340+48_5340+59dup
ENST00000491747.6:c.1965+48_1965+59dup	ENSP00000420705.2:n.1965+48_1965+59dup
ENST00000493795.5:c.5136+48_5136+59dup	ENSP00000418775.1:n.5136+48_5136+59dup
ENST00000586385.5:c.207+48_207+59dup	ENSP00000465818.1:n.207+48_207+59dup
ENST00000591534.5:c.750+48_750+59dup	ENSP00000467329.1:n.750+48_750+59dup
ENST00000591849.5:c.-98-6814_-98-6803dup	ENSP00000465347.1:n.-98-6814_-98-6803dup
NM_007294.3:c.5277+48_5277+59dup , LRG_292t1:c.5277+48_5277+59dup	NP_009225.1:n.5277+48_5277+59dup
NM_007297.3:c.5136+48_5136+59dup	NP_009228.2:n.5136+48_5136+59dup
NM_007298.3:c.1965+48_1965+59dup	NP_009229.2:n.1965+48_1965+59dup
NM_007299.3:c.1965+48_1965+59dup	NP_009230.2:n.1965+48_1965+59dup
NM_007300.3:c.5340+48_5340+59dup	NP_009231.2:n.5340+48_5340+59dup
NR_027676.1:n.5413+48_5413+59dup
NM_007294.4:c.5277+48_5277+59dup MANE Select	NP_009225.1:n.5277+48_5277+59dup
NM_007297.4:c.5136+48_5136+59dup	NP_009228.2:n.5136+48_5136+59dup
NM_007299.4:c.1965+48_1965+59dup	NP_009230.2:n.1965+48_1965+59dup
NM_007300.4:c.5340+48_5340+59dup	NP_009231.2:n.5340+48_5340+59dup
NR_027676.2:n.5454+48_5454+59dup