Canonical Allele Identifier: CA10589609

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266535
• ClinVar RCV Id: RCV000257201
• dbSNP Id: rs886040279
• MyVariant Identifiers: chr17:g.41209133del (hg19) ; chr17:g.43057116del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057117del , CM000679.2:g.43057117del	GRCh38
NC_000017.10:g.41209134del , CM000679.1:g.41209134del	GRCh37
NC_000017.9:g.38462660del	NCBI36
NG_005905.2:g.160868del , LRG_292:g.160868del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5210del	ENSP00000417241.2:p.Gly1737GlufsTer27
ENST00000470026.6:c.5213del	ENSP00000419274.2:p.Gly1738GlufsTer27
ENST00000473961.6:c.5087del	ENSP00000420201.2:p.Gly1696GlufsTer27
ENST00000476777.6:c.5207del	ENSP00000417554.2:p.Gly1736GlufsTer27
ENST00000477152.6:c.5135del	ENSP00000419988.2:p.Gly1712GlufsTer27
ENST00000478531.6:c.1901del	ENSP00000420412.2:p.Gly634GlufsTer27
ENST00000489037.2:c.5135del	ENSP00000420781.2:p.Gly1712GlufsTer27
ENST00000493919.6:c.1763del	ENSP00000418819.2:p.Gly588GlufsTer27
ENST00000494123.6:c.5213del	ENSP00000419103.2:p.Gly1738GlufsTer27
ENST00000497488.2:c.4325del	ENSP00000418986.2:p.Gly1442GlufsTer27
ENST00000618469.2:c.5213del	ENSP00000478114.2:p.Gly1738GlufsTer27
ENST00000634433.2:c.5090del	ENSP00000489431.2:p.Gly1697GlufsTer27
ENST00000644379.2:c.5279del	ENSP00000496570.2:p.Gly1760GlufsTer27
ENST00000644555.2:c.1763del	ENSP00000494614.2:p.Gly588GlufsTer27
ENST00000652672.2:c.5072del	ENSP00000498906.2:p.Gly1691GlufsTer27
ENST00000484087.6:c.1775del	ENSP00000419481.2:p.Gly592GlufsTer27
ENST00000357654.9:c.5213del MANE Select	ENSP00000350283.3:p.Gly1738GlufsTer27
ENST00000471181.7:c.5276del	ENSP00000418960.2:p.Gly1759GlufsTer27
ENST00000644379.1:c.1600del
ENST00000352993.7:c.1787del	ENSP00000312236.5:p.Gly596GlufsTer27
ENST00000357654.7:c.5213del	ENSP00000350283.3:p.Gly1738GlufsTer27
ENST00000461221.5:c.*4996del	ENSP00000418548.1:n.*4996del
ENST00000468300.5:c.1901del	ENSP00000417148.1:p.Gly634GlufsTer27
ENST00000471181.6:c.5276del	ENSP00000418960.2:p.Gly1759GlufsTer27
ENST00000491747.6:c.1901del	ENSP00000420705.2:p.Gly634GlufsTer27
ENST00000493795.5:c.5072del	ENSP00000418775.1:p.Gly1691GlufsTer27
ENST00000586385.5:c.143del	ENSP00000465818.1:p.Gly48GlufsTer27
ENST00000591534.5:c.686del	ENSP00000467329.1:p.Gly229GlufsTer27
ENST00000591849.5:c.-98-6926del	ENSP00000465347.1:n.-98-6926del
NM_007294.3:c.5213del , LRG_292t1:c.5213del	NP_009225.1:p.Gly1738GlufsTer27
NM_007297.3:c.5072del	NP_009228.2:p.Gly1691GlufsTer27
NM_007298.3:c.1901del	NP_009229.2:p.Gly634GlufsTer27
NM_007299.3:c.1901del	NP_009230.2:p.Gly634GlufsTer27
NM_007300.3:c.5276del	NP_009231.2:p.Gly1759GlufsTer27
NR_027676.1:n.5349del
NM_007294.4:c.5213del MANE Select	NP_009225.1:p.Gly1738GlufsTer27
NM_007297.4:c.5072del	NP_009228.2:p.Gly1691GlufsTer27
NM_007299.4:c.1901del	NP_009230.2:p.Gly634GlufsTer27
NM_007300.4:c.5276del	NP_009231.2:p.Gly1759GlufsTer27
NR_027676.2:n.5390del