Canonical Allele Identifier: CA10589604

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266532
• ClinVar RCV Id: RCV000257342
• dbSNP Id: rs886040277
• MyVariant Identifiers: chr17:g.41209099_41209138delinsGA (hg19) ; chr17:g.43057082_43057121delinsGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057082_43057121delinsGA , CM000679.2:g.43057082_43057121delinsGA	GRCh38
NC_000017.10:g.41209099_41209138delinsGA , CM000679.1:g.41209099_41209138delinsGA	GRCh37
NC_000017.9:g.38462625_38462664delinsGA	NCBI36
NG_005905.2:g.160863_160902delinsTC , LRG_292:g.160863_160902delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5205_5244delinsTC	ENSP00000417241.2:p.Arg1736GlnfsTer?
ENST00000470026.6:c.5208_5247delinsTC	ENSP00000419274.2:p.Arg1737GlnfsTer?
ENST00000473961.6:c.5082_5121delinsTC	ENSP00000420201.2:p.Arg1695GlnfsTer?
ENST00000476777.6:c.5202_5241delinsTC	ENSP00000417554.2:p.Arg1735GlnfsTer?
ENST00000477152.6:c.5130_5169delinsTC	ENSP00000419988.2:p.Arg1711GlnfsTer?
ENST00000478531.6:c.1896_1935delinsTC	ENSP00000420412.2:p.Arg633GlnfsTer?
ENST00000489037.2:c.5130_5169delinsTC	ENSP00000420781.2:p.Arg1711GlnfsTer?
ENST00000493919.6:c.1758_1797delinsTC	ENSP00000418819.2:p.Arg587GlnfsTer?
ENST00000494123.6:c.5208_5247delinsTC	ENSP00000419103.2:p.Arg1737GlnfsTer?
ENST00000497488.2:c.4320_4359delinsTC	ENSP00000418986.2:p.Arg1441GlnfsTer?
ENST00000618469.2:c.5208_5247delinsTC	ENSP00000478114.2:p.Arg1737GlnfsTer?
ENST00000634433.2:c.5085_5124delinsTC	ENSP00000489431.2:p.Arg1696GlnfsTer?
ENST00000644379.2:c.5274_5313delinsTC	ENSP00000496570.2:p.Arg1759GlnfsTer?
ENST00000644555.2:c.1758_1797delinsTC	ENSP00000494614.2:p.Arg587GlnfsTer?
ENST00000652672.2:c.5067_5106delinsTC	ENSP00000498906.2:p.Arg1690GlnfsTer?
ENST00000484087.6:c.1770_1809delinsTC	ENSP00000419481.2:p.Arg591GlnfsTer?
ENST00000357654.9:c.5208_5247delinsTC MANE Select	ENSP00000350283.3:p.Arg1737GlnfsTer?
ENST00000471181.7:c.5271_5310delinsTC	ENSP00000418960.2:p.Arg1758GlnfsTer?
ENST00000644379.1:c.1595_1634delinsTC
ENST00000352993.7:c.1782_1821delinsTC	ENSP00000312236.5:p.Arg595GlnfsTer?
ENST00000357654.7:c.5208_5247delinsTC	ENSP00000350283.3:p.Arg1737GlnfsTer?
ENST00000461221.5:c.*4991_*5030delinsTC	ENSP00000418548.1:n.*4991_*5030delinsTC
ENST00000468300.5:c.1896_1935delinsTC	ENSP00000417148.1:p.Arg633GlnfsTer?
ENST00000471181.6:c.5271_5310delinsTC	ENSP00000418960.2:p.Arg1758GlnfsTer?
ENST00000491747.6:c.1896_1935delinsTC	ENSP00000420705.2:p.Arg633GlnfsTer?
ENST00000493795.5:c.5067_5106delinsTC	ENSP00000418775.1:p.Arg1690GlnfsTer?
ENST00000586385.5:c.138_177delinsTC	ENSP00000465818.1:p.Arg47GlnfsTer?
ENST00000591534.5:c.681_720delinsTC	ENSP00000467329.1:p.Arg228GlnfsTer?
ENST00000591849.5:c.-98-6931_-98-6892delinsTC	ENSP00000465347.1:n.-98-6931_-98-6892deli...
NM_007294.3:c.5208_5247delinsTC , LRG_292t1:c.5208_5247delinsTC	NP_009225.1:p.Arg1737GlnfsTer?
NM_007297.3:c.5067_5106delinsTC	NP_009228.2:p.Arg1690GlnfsTer?
NM_007298.3:c.1896_1935delinsTC	NP_009229.2:p.Arg633GlnfsTer?
NM_007299.3:c.1896_1935delinsTC	NP_009230.2:p.Arg633GlnfsTer?
NM_007300.3:c.5271_5310delinsTC	NP_009231.2:p.Arg1758GlnfsTer?
NR_027676.1:n.5344_5383delinsTC
NM_007294.4:c.5208_5247delinsTC MANE Select	NP_009225.1:p.Arg1737GlnfsTer?
NM_007297.4:c.5067_5106delinsTC	NP_009228.2:p.Arg1690GlnfsTer?
NM_007299.4:c.1896_1935delinsTC	NP_009230.2:p.Arg633GlnfsTer?
NM_007300.4:c.5271_5310delinsTC	NP_009231.2:p.Arg1758GlnfsTer?
NR_027676.2:n.5385_5424delinsTC