Canonical Allele Identifier: CA10586603

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 254463
• ClinVar RCV Id: RCV000240977
• dbSNP Id: rs730880288
• MyVariant Identifiers: chr17:g.41215910dupT (hg19) ; chr17:g.41215909_41215910insT (hg19) ; chr17:g.43063893dupT (hg38) ; chr17:g.43063892_43063893insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063896dup , CM000679.2:g.43063896dup	GRCh38
NC_000017.10:g.41215913dup , CM000679.1:g.41215913dup	GRCh37
NC_000017.9:g.38469439dup	NCBI36
NG_005905.2:g.154091dup , LRG_292:g.154091dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5130dup	ENSP00000417241.2:p.Trp1711MetfsTer4
ENST00000470026.6:c.5133dup	ENSP00000419274.2:p.Trp1712MetfsTer4
ENST00000473961.6:c.5007dup	ENSP00000420201.2:p.Trp1670MetfsTer4
ENST00000476777.6:c.5127dup	ENSP00000417554.2:p.Trp1710MetfsTer4
ENST00000477152.6:c.5055dup	ENSP00000419988.2:p.Trp1686MetfsTer4
ENST00000478531.6:c.1821dup	ENSP00000420412.2:p.Trp608MetfsTer4
ENST00000489037.2:c.5055dup	ENSP00000420781.2:p.Trp1686MetfsTer4
ENST00000493919.6:c.1683dup	ENSP00000418819.2:p.Trp562MetfsTer4
ENST00000494123.6:c.5133dup	ENSP00000419103.2:p.Trp1712MetfsTer4
ENST00000497488.2:c.4245dup	ENSP00000418986.2:p.Trp1416MetfsTer4
ENST00000618469.2:c.5133dup	ENSP00000478114.2:p.Trp1712MetfsTer4
ENST00000634433.2:c.5010dup	ENSP00000489431.2:p.Trp1671MetfsTer4
ENST00000644379.2:c.5199dup	ENSP00000496570.2:p.Trp1734MetfsTer4
ENST00000644555.2:c.1683dup	ENSP00000494614.2:p.Trp562MetfsTer4
ENST00000652672.2:c.4992dup	ENSP00000498906.2:p.Trp1665MetfsTer4
ENST00000484087.6:c.1695dup	ENSP00000419481.2:p.Trp566MetfsTer4
ENST00000357654.9:c.5133dup MANE Select	ENSP00000350283.3:p.Trp1712MetfsTer4
ENST00000471181.7:c.5196dup	ENSP00000418960.2:p.Trp1733MetfsTer4
ENST00000644379.1:c.1520dup
ENST00000352993.7:c.1707dup	ENSP00000312236.5:p.Trp570MetfsTer4
ENST00000357654.7:c.5133dup	ENSP00000350283.3:p.Trp1712MetfsTer4
ENST00000461221.5:c.*4916dup	ENSP00000418548.1:n.*4916dup
ENST00000468300.5:c.1821dup	ENSP00000417148.1:p.Trp608MetfsTer4
ENST00000471181.6:c.5196dup	ENSP00000418960.2:p.Trp1733MetfsTer4
ENST00000478531.5:c.1821dup	ENSP00000420412.1:p.Trp608MetfsTer4
ENST00000484087.5:c.1446dup	ENSP00000419481.1:p.Trp483MetfsTer4
ENST00000491747.6:c.1821dup	ENSP00000420705.2:p.Trp608MetfsTer4
ENST00000493795.5:c.4992dup	ENSP00000418775.1:p.Trp1665MetfsTer4
ENST00000493919.5:c.1683dup	ENSP00000418819.1:p.Trp562MetfsTer4
ENST00000586385.5:c.63dup	ENSP00000465818.1:p.Trp22MetfsTer4
ENST00000591534.5:c.606dup	ENSP00000467329.1:p.Trp203MetfsTer4
ENST00000591849.5:c.-98-13703dup	ENSP00000465347.1:n.-98-13703dup
NM_007294.3:c.5133dup , LRG_292t1:c.5133dup	NP_009225.1:p.Trp1712MetfsTer4
NM_007297.3:c.4992dup	NP_009228.2:p.Trp1665MetfsTer4
NM_007298.3:c.1821dup	NP_009229.2:p.Trp608MetfsTer4
NM_007299.3:c.1821dup	NP_009230.2:p.Trp608MetfsTer4
NM_007300.3:c.5196dup	NP_009231.2:p.Trp1733MetfsTer4
NR_027676.1:n.5269dup
NM_007294.4:c.5133dup MANE Select	NP_009225.1:p.Trp1712MetfsTer4
NM_007297.4:c.4992dup	NP_009228.2:p.Trp1665MetfsTer4
NM_007299.4:c.1821dup	NP_009230.2:p.Trp608MetfsTer4
NM_007300.4:c.5196dup	NP_009231.2:p.Trp1733MetfsTer4
NR_027676.2:n.5310dup