Canonical Allele Identifier: CA003404
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17677
ClinVar RCV Id: RCV000019246 RCV000019247 RCV000131328 RCV000119097 RCV000056287 RCV000258962 RCV000415060 RCV000412924 RCV000495973 RCV000735471 RCV001353680 RCV002504809 RCV003128129 RCV004554607
dbSNP Id: rs80357906
ExAC: 17:41209079 T / TG
gnomAD v2: 17-41209079-T-TG
gnomAD v3: 17-43057062-T-TG
gnomAD v4: 17-43057062-T-TG
COSMIC: COSM35891
MyVariant Identifiers: chr17:g.41209082dupG (hg19) chr17:g.41209079_41209080insG (hg19) chr17:g.43057065dupG (hg38) chr17:g.43057062_43057063insG (hg38)
PubMed: PMID:3405339 PMID:7894492 PMID:8531967 PMID:8841191 PMID:9042909 PMID:9150153 PMID:10053113 PMID:10090881 PMID:10447273 PMID:10699917 PMID:11389159 PMID:11466700 PMID:12142080 PMID:15024741 PMID:15133502 PMID:15353005 PMID:15951956 PMID:15994883 PMID:16541315 PMID:17307836 PMID:18694767 PMID:19208665 PMID:20301425 PMID:20345474 PMID:20507347 PMID:20569256 PMID:21119707 PMID:21324516 PMID:21503673 PMID:22006311 PMID:22009639 PMID:22032251 PMID:22185575 PMID:22430266 PMID:23199084 PMID:23232912 PMID:23469205 PMID:23867111 PMID:24504028 PMID:24884479 PMID:25980754 PMID:26295337 PMID:26681312 PMID:26718727 PMID:27433846
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43057065dup , CM000679.2:g.43057065dup GRCh38
NC_000017.10:g.41209082dup , CM000679.1:g.41209082dup GRCh37
NC_000017.9:g.38462608dup NCBI36
NG_005905.2:g.160921dup , LRG_292:g.160921dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5263dup ENSP00000417241.2:p.Gln1755ProfsTer?
ENST00000470026.6:c.5266dup ENSP00000419274.2:p.Gln1756ProfsTer?
ENST00000473961.6:c.5140dup ENSP00000420201.2:p.Gln1714ProfsTer?
ENST00000476777.6:c.5260dup ENSP00000417554.2:p.Gln1754ProfsTer?
ENST00000477152.6:c.5188dup ENSP00000419988.2:p.Gln1730ProfsTer?
ENST00000478531.6:c.1954dup ENSP00000420412.2:p.Gln652ProfsTer?
ENST00000489037.2:c.5188dup ENSP00000420781.2:p.Gln1730ProfsTer?
ENST00000493919.6:c.1816dup ENSP00000418819.2:p.Gln606ProfsTer?
ENST00000494123.6:c.5266dup ENSP00000419103.2:p.Gln1756ProfsTer?
ENST00000497488.2:c.4378dup ENSP00000418986.2:p.Gln1460ProfsTer?
ENST00000618469.2:c.5266dup ENSP00000478114.2:p.Gln1756ProfsTer?
ENST00000634433.2:c.5143dup ENSP00000489431.2:p.Gln1715ProfsTer?
ENST00000644379.2:c.5332dup ENSP00000496570.2:p.Gln1778ProfsTer?
ENST00000644555.2:c.1816dup ENSP00000494614.2:p.Gln606ProfsTer?
ENST00000652672.2:c.5125dup ENSP00000498906.2:p.Gln1709ProfsTer?
ENST00000484087.6:c.1828dup ENSP00000419481.2:p.Gln610ProfsTer?
ENST00000357654.9:c.5266dup MANE Select ENSP00000350283.3:p.Gln1756ProfsTer?
ENST00000471181.7:c.5329dup ENSP00000418960.2:p.Gln1777ProfsTer?
ENST00000644379.1:c.1653dup
ENST00000352993.7:c.1840dup ENSP00000312236.5:p.Gln614ProfsTer?
ENST00000357654.7:c.5266dup ENSP00000350283.3:p.Gln1756ProfsTer?
ENST00000461221.5:c.*5049dup ENSP00000418548.1:n.*5049dup
ENST00000468300.5:c.1954dup ENSP00000417148.1:p.Gln652ProfsTer?
ENST00000471181.6:c.5329dup ENSP00000418960.2:p.Gln1777ProfsTer?
ENST00000491747.6:c.1954dup ENSP00000420705.2:p.Gln652ProfsTer?
ENST00000493795.5:c.5125dup ENSP00000418775.1:p.Gln1709ProfsTer?
ENST00000586385.5:c.196dup ENSP00000465818.1:p.Gln66ProfsTer?
ENST00000591534.5:c.739dup ENSP00000467329.1:p.Gln247ProfsTer?
ENST00000591849.5:c.-98-6873dup ENSP00000465347.1:n.-98-6873dup
NM_007294.3:c.5266dup , LRG_292t1:c.5266dup NP_009225.1:p.Gln1756ProfsTer?
NM_007297.3:c.5125dup NP_009228.2:p.Gln1709ProfsTer?
NM_007298.3:c.1954dup NP_009229.2:p.Gln652ProfsTer?
NM_007299.3:c.1954dup NP_009230.2:p.Gln652ProfsTer?
NM_007300.3:c.5329dup NP_009231.2:p.Gln1777ProfsTer?
NR_027676.1:n.5402dup
NM_007294.4:c.5266dup MANE Select NP_009225.1:p.Gln1756ProfsTer?
NM_007297.4:c.5125dup NP_009228.2:p.Gln1709ProfsTer?
NM_007299.4:c.1954dup NP_009230.2:p.Gln652ProfsTer?
NM_007300.4:c.5329dup NP_009231.2:p.Gln1777ProfsTer?
NR_027676.2:n.5443dup
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