Canonical Allele Identifier: CA10589622

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266521
• ClinVar RCV Id: RCV000257536
• dbSNP Id: rs886040268
• MyVariant Identifiers: chr17:g.41219634dupT (hg19) ; chr17:g.41219633_41219634insT (hg19) ; chr17:g.43067617dupT (hg38) ; chr17:g.43067616_43067617insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067617dup , CM000679.2:g.43067617dup	GRCh38
NC_000017.10:g.41219634dup , CM000679.1:g.41219634dup	GRCh37
NC_000017.9:g.38473160dup	NCBI36
NG_005905.2:g.150367dup , LRG_292:g.150367dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5062dup	ENSP00000417241.2:p.Met1688AsnfsTer6
ENST00000470026.6:c.5065dup	ENSP00000419274.2:p.Met1689AsnfsTer6
ENST00000473961.6:c.4939dup	ENSP00000420201.2:p.Met1647AsnfsTer6
ENST00000476777.6:c.5059dup	ENSP00000417554.2:p.Met1687AsnfsTer6
ENST00000477152.6:c.4987dup	ENSP00000419988.2:p.Met1663AsnfsTer6
ENST00000478531.6:c.1753dup	ENSP00000420412.2:p.Met585AsnfsTer6
ENST00000489037.2:c.4987dup	ENSP00000420781.2:p.Met1663AsnfsTer6
ENST00000493919.6:c.1615dup	ENSP00000418819.2:p.Met539AsnfsTer6
ENST00000494123.6:c.5065dup	ENSP00000419103.2:p.Met1689AsnfsTer6
ENST00000497488.2:c.4177dup	ENSP00000418986.2:p.Met1393AsnfsTer6
ENST00000618469.2:c.5065dup	ENSP00000478114.2:p.Met1689AsnfsTer6
ENST00000634433.2:c.4942dup	ENSP00000489431.2:p.Met1648AsnfsTer6
ENST00000644379.2:c.5131dup	ENSP00000496570.2:p.Met1711AsnfsTer6
ENST00000644555.2:c.1615dup	ENSP00000494614.2:p.Met539AsnfsTer6
ENST00000652672.2:c.4924dup	ENSP00000498906.2:p.Met1642AsnfsTer6
ENST00000484087.6:c.1627dup	ENSP00000419481.2:p.Met543AsnfsTer6
ENST00000357654.9:c.5065dup MANE Select	ENSP00000350283.3:p.Met1689AsnfsTer6
ENST00000471181.7:c.5128dup	ENSP00000418960.2:p.Met1710AsnfsTer6
ENST00000644379.1:c.1452dup
ENST00000352993.7:c.1639dup	ENSP00000312236.5:p.Met547AsnfsTer6
ENST00000357654.7:c.5065dup	ENSP00000350283.3:p.Met1689AsnfsTer6
ENST00000461221.5:c.*4848dup	ENSP00000418548.1:n.*4848dup
ENST00000468300.5:c.1753dup	ENSP00000417148.1:p.Met585AsnfsTer6
ENST00000471181.6:c.5128dup	ENSP00000418960.2:p.Met1710AsnfsTer6
ENST00000472490.1:n.218dup
ENST00000478531.5:c.1753dup	ENSP00000420412.1:p.Met585AsnfsTer6
ENST00000484087.5:c.1378dup	ENSP00000419481.1:p.Met460AsnfsTer6
ENST00000491747.6:c.1753dup	ENSP00000420705.2:p.Met585AsnfsTer6
ENST00000493795.5:c.4924dup	ENSP00000418775.1:p.Met1642AsnfsTer6
ENST00000493919.5:c.1615dup	ENSP00000418819.1:p.Met539AsnfsTer6
ENST00000586385.5:c.5-3666dup	ENSP00000465818.1:n.5-3666dup
ENST00000591534.5:c.538dup	ENSP00000467329.1:p.Met180AsnfsTer6
ENST00000591849.5:c.-98-17427dup	ENSP00000465347.1:n.-98-17427dup
NM_007294.3:c.5065dup , LRG_292t1:c.5065dup	NP_009225.1:p.Met1689AsnfsTer6
NM_007297.3:c.4924dup	NP_009228.2:p.Met1642AsnfsTer6
NM_007298.3:c.1753dup	NP_009229.2:p.Met585AsnfsTer6
NM_007299.3:c.1753dup	NP_009230.2:p.Met585AsnfsTer6
NM_007300.3:c.5128dup	NP_009231.2:p.Met1710AsnfsTer6
NR_027676.1:n.5201dup
NM_007294.4:c.5065dup MANE Select	NP_009225.1:p.Met1689AsnfsTer6
NM_007297.4:c.4924dup	NP_009228.2:p.Met1642AsnfsTer6
NM_007299.4:c.1753dup	NP_009230.2:p.Met585AsnfsTer6
NM_007300.4:c.5128dup	NP_009231.2:p.Met1710AsnfsTer6
NR_027676.2:n.5242dup