Canonical Allele Identifier: CA003269
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 125765
ClinVar RCV Id: RCV000112510
dbSNP Id: rs80357870
MyVariant Identifiers: chr17:g.41215898del (hg19) chr17:g.43063881del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43063881del , CM000679.2:g.43063881del GRCh38
NC_000017.10:g.41215898del , CM000679.1:g.41215898del GRCh37
NC_000017.9:g.38469424del NCBI36
NG_005905.2:g.154103del , LRG_292:g.154103del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.5142del ENSP00000417241.2:p.Tyr1715IlefsTer4
ENST00000470026.6:c.5145del ENSP00000419274.2:p.Tyr1716IlefsTer4
ENST00000473961.6:c.5019del ENSP00000420201.2:p.Tyr1674IlefsTer4
ENST00000476777.6:c.5139del ENSP00000417554.2:p.Tyr1714IlefsTer4
ENST00000477152.6:c.5067del ENSP00000419988.2:p.Tyr1690IlefsTer4
ENST00000478531.6:c.1833del ENSP00000420412.2:p.Tyr612IlefsTer4
ENST00000489037.2:c.5067del ENSP00000420781.2:p.Tyr1690IlefsTer4
ENST00000493919.6:c.1695del ENSP00000418819.2:p.Tyr566IlefsTer4
ENST00000494123.6:c.5145del ENSP00000419103.2:p.Tyr1716IlefsTer4
ENST00000497488.2:c.4257del ENSP00000418986.2:p.Tyr1420IlefsTer4
ENST00000618469.2:c.5145del ENSP00000478114.2:p.Tyr1716IlefsTer4
ENST00000634433.2:c.5022del ENSP00000489431.2:p.Tyr1675IlefsTer4
ENST00000644379.2:c.5211del ENSP00000496570.2:p.Tyr1738IlefsTer4
ENST00000644555.2:c.1695del ENSP00000494614.2:p.Tyr566IlefsTer4
ENST00000652672.2:c.5004del ENSP00000498906.2:p.Tyr1669IlefsTer4
ENST00000484087.6:c.1707del ENSP00000419481.2:p.Tyr570IlefsTer4
ENST00000357654.9:c.5145del MANE Select ENSP00000350283.3:p.Tyr1716IlefsTer4
ENST00000471181.7:c.5208del ENSP00000418960.2:p.Tyr1737IlefsTer4
ENST00000644379.1:c.1532del
ENST00000352993.7:c.1719del ENSP00000312236.5:p.Tyr574IlefsTer4
ENST00000357654.7:c.5145del ENSP00000350283.3:p.Tyr1716IlefsTer4
ENST00000461221.5:c.*4928del ENSP00000418548.1:n.*4928del
ENST00000468300.5:c.1833del ENSP00000417148.1:p.Tyr612IlefsTer4
ENST00000471181.6:c.5208del ENSP00000418960.2:p.Tyr1737IlefsTer4
ENST00000478531.5:c.1833del ENSP00000420412.1:p.Tyr612IlefsTer4
ENST00000484087.5:c.1458del ENSP00000419481.1:p.Tyr487IlefsTer4
ENST00000491747.6:c.1833del ENSP00000420705.2:p.Tyr612IlefsTer4
ENST00000493795.5:c.5004del ENSP00000418775.1:p.Tyr1669IlefsTer4
ENST00000493919.5:c.1695del ENSP00000418819.1:p.Tyr566IlefsTer4
ENST00000586385.5:c.75del ENSP00000465818.1:p.Tyr26IlefsTer4
ENST00000591534.5:c.618del ENSP00000467329.1:p.Tyr207IlefsTer4
ENST00000591849.5:c.-98-13691del ENSP00000465347.1:n.-98-13691del
NM_007294.3:c.5145del , LRG_292t1:c.5145del NP_009225.1:p.Tyr1716IlefsTer4
NM_007297.3:c.5004del NP_009228.2:p.Tyr1669IlefsTer4
NM_007298.3:c.1833del NP_009229.2:p.Tyr612IlefsTer4
NM_007299.3:c.1833del NP_009230.2:p.Tyr612IlefsTer4
NM_007300.3:c.5208del NP_009231.2:p.Tyr1737IlefsTer4
NR_027676.1:n.5281del
NM_007294.4:c.5145del MANE Select NP_009225.1:p.Tyr1716IlefsTer4
NM_007297.4:c.5004del NP_009228.2:p.Tyr1669IlefsTer4
NM_007299.4:c.1833del NP_009230.2:p.Tyr612IlefsTer4
NM_007300.4:c.5208del NP_009231.2:p.Tyr1737IlefsTer4
NR_027676.2:n.5322del
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