Canonical Allele Identifier: CA10589591

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266553
• ClinVar RCV Id: RCV000256961
• dbSNP Id: rs80357934
• MyVariant Identifiers: chr17:g.41199708dupT (hg19) ; chr17:g.41199707_41199708insT (hg19) ; chr17:g.43047691dupT (hg38) ; chr17:g.43047690_43047691insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047692dup , CM000679.2:g.43047692dup	GRCh38
NC_000017.10:g.41199709dup , CM000679.1:g.41199709dup	GRCh37
NC_000017.9:g.38453235dup	NCBI36
NG_005905.2:g.170293dup , LRG_292:g.170293dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5416dup	ENSP00000417241.2:p.Ile1806AsnfsTer23
ENST00000470026.6:c.5419dup	ENSP00000419274.2:p.Ile1807AsnfsTer23
ENST00000473961.6:c.5293dup	ENSP00000420201.2:p.Ile1765AsnfsTer23
ENST00000476777.6:c.5413dup	ENSP00000417554.2:p.Ile1805AsnfsTer23
ENST00000477152.6:c.5341dup	ENSP00000419988.2:p.Ile1781AsnfsTer23
ENST00000478531.6:c.2107dup	ENSP00000420412.2:p.Ile703AsnfsTer23
ENST00000489037.2:c.5341dup	ENSP00000420781.2:p.Ile1781AsnfsTer23
ENST00000493919.6:c.1969dup	ENSP00000418819.2:p.Ile657AsnfsTer23
ENST00000494123.6:c.5419dup	ENSP00000419103.2:p.Ile1807AsnfsTer23
ENST00000497488.2:c.4531dup	ENSP00000418986.2:p.Ile1511AsnfsTer23
ENST00000618469.2:c.5419dup	ENSP00000478114.2:p.Ile1807AsnfsTer23
ENST00000634433.2:c.5296dup	ENSP00000489431.2:p.Ile1766AsnfsTer23
ENST00000644379.2:c.5485dup	ENSP00000496570.2:p.Ile1829AsnfsTer23
ENST00000644555.2:c.1969dup	ENSP00000494614.2:p.Ile657AsnfsTer23
ENST00000652672.2:c.5278dup	ENSP00000498906.2:p.Ile1760AsnfsTer23
ENST00000484087.6:c.1981dup	ENSP00000419481.2:p.Ile661AsnfsTer23
ENST00000700081.1:n.1302dup
ENST00000700082.1:n.783dup
ENST00000357654.9:c.5419dup MANE Select	ENSP00000350283.3:p.Ile1807AsnfsTer23
ENST00000471181.7:c.5482dup	ENSP00000418960.2:p.Ile1828AsnfsTer23
ENST00000644379.1:c.1806dup
ENST00000352993.7:c.1993dup	ENSP00000312236.5:p.Ile665AsnfsTer23
ENST00000357654.7:c.5419dup	ENSP00000350283.3:p.Ile1807AsnfsTer23
ENST00000461221.5:c.*5202dup	ENSP00000418548.1:n.*5202dup
ENST00000468300.5:c.2033dup	ENSP00000417148.1:p.Asn678LysfsTer28
ENST00000471181.6:c.5482dup	ENSP00000418960.2:p.Ile1828AsnfsTer23
ENST00000491747.6:c.2107dup	ENSP00000420705.2:p.Ile703AsnfsTer23
ENST00000493795.5:c.5278dup	ENSP00000418775.1:p.Ile1760AsnfsTer23
ENST00000586385.5:c.349dup	ENSP00000465818.1:p.Ile117AsnfsTer23
ENST00000591534.5:c.892dup	ENSP00000467329.1:p.Ile298AsnfsTer23
ENST00000591849.5:c.118dup	ENSP00000465347.1:p.Ile40AsnfsTer23
NM_007294.3:c.5419dup , LRG_292t1:c.5419dup	NP_009225.1:p.Ile1807AsnfsTer23
NM_007297.3:c.5278dup	NP_009228.2:p.Ile1760AsnfsTer23
NM_007298.3:c.2107dup	NP_009229.2:p.Ile703AsnfsTer23
NM_007299.3:c.2033dup	NP_009230.2:p.Asn678LysfsTer28
NM_007300.3:c.5482dup	NP_009231.2:p.Ile1828AsnfsTer23
NR_027676.1:n.5555dup
NM_007294.4:c.5419dup MANE Select	NP_009225.1:p.Ile1807AsnfsTer23
NM_007297.4:c.5278dup	NP_009228.2:p.Ile1760AsnfsTer23
NM_007299.4:c.2033dup	NP_009230.2:p.Asn678LysfsTer28
NM_007300.4:c.5482dup	NP_009231.2:p.Ile1828AsnfsTer23
NR_027676.2:n.5596dup