Canonical Allele Identifier: CA290827531

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1191535
• ClinVar RCV Id: RCV001552648
• dbSNP Id: rs34267863
• gnomAD v2: 17-41219272-G-GT
• gnomAD v3: 17-43067255-G-GT
• gnomAD v4: 17-43067255-G-GT
• MyVariant Identifiers: chr17:g.41219274_41219275insT (hg19) ; chr17:g.41219272_41219273insT (hg19) ; chr17:g.43067257_43067258insT (hg38) ; chr17:g.43067255_43067256insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067273dup , CM000679.2:g.43067273dup	GRCh38
NC_000017.10:g.41219290dup , CM000679.1:g.41219290dup	GRCh37
NC_000017.9:g.38472816dup	NCBI36
NG_005905.2:g.150728dup , LRG_292:g.150728dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5071+352dup	ENSP00000417241.2:n.5071+352dup
ENST00000470026.6:c.5074+352dup	ENSP00000419274.2:n.5074+352dup
ENST00000473961.6:c.4948+352dup	ENSP00000420201.2:n.4948+352dup
ENST00000476777.6:c.5068+352dup	ENSP00000417554.2:n.5068+352dup
ENST00000477152.6:c.4996+352dup	ENSP00000419988.2:n.4996+352dup
ENST00000478531.6:c.1762+352dup	ENSP00000420412.2:n.1762+352dup
ENST00000489037.2:c.4996+352dup	ENSP00000420781.2:n.4996+352dup
ENST00000493919.6:c.1624+352dup	ENSP00000418819.2:n.1624+352dup
ENST00000494123.6:c.5074+352dup	ENSP00000419103.2:n.5074+352dup
ENST00000497488.2:c.4186+352dup	ENSP00000418986.2:n.4186+352dup
ENST00000618469.2:c.5074+352dup	ENSP00000478114.2:n.5074+352dup
ENST00000634433.2:c.4951+352dup	ENSP00000489431.2:n.4951+352dup
ENST00000644379.2:c.5140+352dup	ENSP00000496570.2:n.5140+352dup
ENST00000644555.2:c.1624+352dup	ENSP00000494614.2:n.1624+352dup
ENST00000652672.2:c.4933+352dup	ENSP00000498906.2:n.4933+352dup
ENST00000484087.6:c.1636+352dup	ENSP00000419481.2:n.1636+352dup
ENST00000357654.9:c.5074+352dup MANE Select	ENSP00000350283.3:n.5074+352dup
ENST00000471181.7:c.5137+352dup	ENSP00000418960.2:n.5137+352dup
ENST00000644379.1:c.1461+352dup
ENST00000352993.7:c.1648+352dup	ENSP00000312236.5:n.1648+352dup
ENST00000357654.7:c.5074+352dup	ENSP00000350283.3:n.5074+352dup
ENST00000461221.5:c.*4857+352dup	ENSP00000418548.1:n.*4857+352dup
ENST00000468300.5:c.1762+352dup	ENSP00000417148.1:n.1762+352dup
ENST00000471181.6:c.5137+352dup	ENSP00000418960.2:n.5137+352dup
ENST00000478531.5:c.1762+352dup	ENSP00000420412.1:n.1762+352dup
ENST00000484087.5:c.1387+352dup	ENSP00000419481.1:n.1387+352dup
ENST00000491747.6:c.1762+352dup	ENSP00000420705.2:n.1762+352dup
ENST00000493795.5:c.4933+352dup	ENSP00000418775.1:n.4933+352dup
ENST00000493919.5:c.1624+352dup	ENSP00000418819.1:n.1624+352dup
ENST00000586385.5:c.5-3305dup	ENSP00000465818.1:n.5-3305dup
ENST00000591534.5:c.547+352dup	ENSP00000467329.1:n.547+352dup
ENST00000591849.5:c.-98-17066dup	ENSP00000465347.1:n.-98-17066dup
NM_007294.3:c.5074+352dup , LRG_292t1:c.5074+352dup	NP_009225.1:n.5074+352dup
NM_007297.3:c.4933+352dup	NP_009228.2:n.4933+352dup
NM_007298.3:c.1762+352dup	NP_009229.2:n.1762+352dup
NM_007299.3:c.1762+352dup	NP_009230.2:n.1762+352dup
NM_007300.3:c.5137+352dup	NP_009231.2:n.5137+352dup
NR_027676.1:n.5210+352dup
NM_007294.4:c.5074+352dup MANE Select	NP_009225.1:n.5074+352dup
NM_007297.4:c.4933+352dup	NP_009228.2:n.4933+352dup
NM_007299.4:c.1762+352dup	NP_009230.2:n.1762+352dup
NM_007300.4:c.5137+352dup	NP_009231.2:n.5137+352dup
NR_027676.2:n.5251+352dup