Canonical Allele Identifier: CA10586602

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 254464
• ClinVar RCV Id: RCV000241122 ; RCV001023774
• dbSNP Id: rs886038042
• MyVariant Identifiers: chr17:g.41209112dupT (hg19) ; chr17:g.41209111_41209112insT (hg19) ; chr17:g.43057095dupT (hg38) ; chr17:g.43057094_43057095insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057097dup , CM000679.2:g.43057097dup	GRCh38
NC_000017.10:g.41209114dup , CM000679.1:g.41209114dup	GRCh37
NC_000017.9:g.38462640dup	NCBI36
NG_005905.2:g.160889dup , LRG_292:g.160889dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5231dup	ENSP00000417241.2:p.Asn1744LysfsTer?
ENST00000470026.6:c.5234dup	ENSP00000419274.2:p.Asn1745LysfsTer?
ENST00000473961.6:c.5108dup	ENSP00000420201.2:p.Asn1703LysfsTer?
ENST00000476777.6:c.5228dup	ENSP00000417554.2:p.Asn1743LysfsTer?
ENST00000477152.6:c.5156dup	ENSP00000419988.2:p.Asn1719LysfsTer?
ENST00000478531.6:c.1922dup	ENSP00000420412.2:p.Asn641LysfsTer?
ENST00000489037.2:c.5156dup	ENSP00000420781.2:p.Asn1719LysfsTer?
ENST00000493919.6:c.1784dup	ENSP00000418819.2:p.Asn595LysfsTer?
ENST00000494123.6:c.5234dup	ENSP00000419103.2:p.Asn1745LysfsTer?
ENST00000497488.2:c.4346dup	ENSP00000418986.2:p.Asn1449LysfsTer?
ENST00000618469.2:c.5234dup	ENSP00000478114.2:p.Asn1745LysfsTer?
ENST00000634433.2:c.5111dup	ENSP00000489431.2:p.Asn1704LysfsTer?
ENST00000644379.2:c.5300dup	ENSP00000496570.2:p.Asn1767LysfsTer?
ENST00000644555.2:c.1784dup	ENSP00000494614.2:p.Asn595LysfsTer?
ENST00000652672.2:c.5093dup	ENSP00000498906.2:p.Asn1698LysfsTer?
ENST00000484087.6:c.1796dup	ENSP00000419481.2:p.Asn599LysfsTer?
ENST00000357654.9:c.5234dup MANE Select	ENSP00000350283.3:p.Asn1745LysfsTer?
ENST00000471181.7:c.5297dup	ENSP00000418960.2:p.Asn1766LysfsTer?
ENST00000644379.1:c.1621dup
ENST00000352993.7:c.1808dup	ENSP00000312236.5:p.Asn603LysfsTer?
ENST00000357654.7:c.5234dup	ENSP00000350283.3:p.Asn1745LysfsTer?
ENST00000461221.5:c.*5017dup	ENSP00000418548.1:n.*5017dup
ENST00000468300.5:c.1922dup	ENSP00000417148.1:p.Asn641LysfsTer?
ENST00000471181.6:c.5297dup	ENSP00000418960.2:p.Asn1766LysfsTer?
ENST00000491747.6:c.1922dup	ENSP00000420705.2:p.Asn641LysfsTer?
ENST00000493795.5:c.5093dup	ENSP00000418775.1:p.Asn1698LysfsTer?
ENST00000586385.5:c.164dup	ENSP00000465818.1:p.Asn55LysfsTer?
ENST00000591534.5:c.707dup	ENSP00000467329.1:p.Asn236LysfsTer?
ENST00000591849.5:c.-98-6905dup	ENSP00000465347.1:n.-98-6905dup
NM_007294.3:c.5234dup , LRG_292t1:c.5234dup	NP_009225.1:p.Asn1745LysfsTer?
NM_007297.3:c.5093dup	NP_009228.2:p.Asn1698LysfsTer?
NM_007298.3:c.1922dup	NP_009229.2:p.Asn641LysfsTer?
NM_007299.3:c.1922dup	NP_009230.2:p.Asn641LysfsTer?
NM_007300.3:c.5297dup	NP_009231.2:p.Asn1766LysfsTer?
NR_027676.1:n.5370dup
NM_007294.4:c.5234dup MANE Select	NP_009225.1:p.Asn1745LysfsTer?
NM_007297.4:c.5093dup	NP_009228.2:p.Asn1698LysfsTer?
NM_007299.4:c.1922dup	NP_009230.2:p.Asn641LysfsTer?
NM_007300.4:c.5297dup	NP_009231.2:p.Asn1766LysfsTer?
NR_027676.2:n.5411dup