Canonical Allele Identifier: CA16616882
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 417827
ClinVar RCV Id: RCV000477847 RCV000496903 RCV000566053
dbSNP Id: rs1060505048
MyVariant Identifiers: chr17:g.41197753del (hg19) chr17:g.43045736del (hg38)
PubMed: PMID:19016756 PMID:20858050 PMID:22798144 PMID:25066507
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43045736del , CM000679.2:g.43045736del GRCh38
NC_000017.10:g.41197753del , CM000679.1:g.41197753del GRCh37
NC_000017.9:g.38451279del NCBI36
NG_005905.2:g.172248del , LRG_292:g.172248del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.5531del ENSP00000417241.2:p.Tyr1844SerfsTer10
ENST00000470026.6:c.5534del ENSP00000419274.2:p.Tyr1845SerfsTer10
ENST00000473961.6:c.5408del ENSP00000420201.2:p.Tyr1803SerfsTer10
ENST00000476777.6:c.5528del ENSP00000417554.2:p.Tyr1843SerfsTer10
ENST00000477152.6:c.5456del ENSP00000419988.2:p.Tyr1819SerfsTer10
ENST00000478531.6:c.2222del ENSP00000420412.2:p.Tyr741SerfsTer10
ENST00000489037.2:c.5456del ENSP00000420781.2:p.Tyr1819SerfsTer10
ENST00000493919.6:c.2084del ENSP00000418819.2:p.Tyr695SerfsTer10
ENST00000494123.6:c.5534del ENSP00000419103.2:p.Tyr1845SerfsTer10
ENST00000497488.2:c.4646del ENSP00000418986.2:p.Tyr1549SerfsTer10
ENST00000618469.2:c.5534del ENSP00000478114.2:p.Tyr1845SerfsTer10
ENST00000634433.2:c.5411del ENSP00000489431.2:p.Tyr1804SerfsTer10
ENST00000644379.2:c.5600del ENSP00000496570.2:p.Tyr1867SerfsTer10
ENST00000644555.2:c.2084del ENSP00000494614.2:p.Tyr695SerfsTer10
ENST00000652672.2:c.5393del ENSP00000498906.2:p.Tyr1798SerfsTer10
ENST00000484087.6:c.2096del ENSP00000419481.2:p.Tyr699SerfsTer10
ENST00000700081.1:n.1417del
ENST00000700082.1:n.898del
ENST00000357654.9:c.5534del MANE Select ENSP00000350283.3:p.Tyr1845SerfsTer10
ENST00000471181.7:c.5597del ENSP00000418960.2:p.Tyr1866SerfsTer10
ENST00000644379.1:c.1921del
ENST00000352993.7:c.2108del ENSP00000312236.5:p.Tyr703SerfsTer10
ENST00000357654.7:c.5534del ENSP00000350283.3:p.Tyr1845SerfsTer10
ENST00000461221.5:c.*5317del ENSP00000418548.1:n.*5317del
ENST00000468300.5:c.*48del ENSP00000417148.1:n.*48del
ENST00000471181.6:c.5597del ENSP00000418960.2:p.Tyr1866SerfsTer10
ENST00000491747.6:c.2222del ENSP00000420705.2:p.Tyr741SerfsTer10
ENST00000493795.5:c.5393del ENSP00000418775.1:p.Tyr1798SerfsTer10
ENST00000586385.5:c.464del ENSP00000465818.1:p.Tyr155SerfsTer10
ENST00000591534.5:c.1007del ENSP00000467329.1:p.Tyr336SerfsTer10
ENST00000591849.5:c.233del ENSP00000465347.1:p.Tyr78SerfsTer10
NM_007294.3:c.5534del , LRG_292t1:c.5534del NP_009225.1:p.Tyr1845SerfsTer10
NM_007297.3:c.5393del NP_009228.2:p.Tyr1798SerfsTer10
NM_007298.3:c.2222del NP_009229.2:p.Tyr741SerfsTer10
NM_007299.3:c.*48del NP_009230.2:n.*48del
NM_007300.3:c.5597del NP_009231.2:p.Tyr1866SerfsTer10
NR_027676.1:n.5670del
NM_007294.4:c.5534del MANE Select NP_009225.1:p.Tyr1845SerfsTer10
NM_007297.4:c.5393del NP_009228.2:p.Tyr1798SerfsTer10
NM_007299.4:c.*48del NP_009230.2:n.*48del
NM_007300.4:c.5597del NP_009231.2:p.Tyr1866SerfsTer10
NR_027676.2:n.5711del
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