Canonical Allele Identifier: CA003941
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 55740
ClinVar RCV Id: RCV002513671
dbSNP Id: rs80357719
MyVariant Identifiers: chr17:g.41246696_41246697del (hg19) chr17:g.43094679_43094680del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094679_43094680del , CM000679.2:g.43094679_43094680del GRCh38
NC_000017.10:g.41246696_41246697del , CM000679.1:g.41246696_41246697del GRCh37
NC_000017.9:g.38500222_38500223del NCBI36
NG_005905.2:g.123304_123305del , LRG_292:g.123304_123305del

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.915_916del
ENST00000461574.2:c.851_852del ENSP00000417241.2:p.Gln284ProfsTer2
ENST00000470026.6:c.851_852del ENSP00000419274.2:p.Gln284ProfsTer2
ENST00000473961.6:c.725_726del ENSP00000420201.2:p.Gln242ProfsTer2
ENST00000476777.6:c.848_849del ENSP00000417554.2:p.Gln283ProfsTer2
ENST00000477152.6:c.773_774del ENSP00000419988.2:p.Gln258ProfsTer2
ENST00000478531.6:c.784+64_784+65del ENSP00000420412.2:n.784+64_784+65del
ENST00000489037.2:c.773_774del ENSP00000420781.2:p.Gln258ProfsTer2
ENST00000493919.6:c.646+64_646+65del ENSP00000418819.2:n.646+64_646+65del
ENST00000494123.6:c.851_852del ENSP00000419103.2:p.Gln284ProfsTer2
ENST00000497488.2:c.-38_-37del ENSP00000418986.2:n.-38_-37del
ENST00000618469.2:c.851_852del ENSP00000478114.2:p.Gln284ProfsTer2
ENST00000634433.2:c.728_729del ENSP00000489431.2:p.Gln243ProfsTer2
ENST00000644379.2:c.851_852del ENSP00000496570.2:p.Gln284ProfsTer2
ENST00000644555.2:c.646+64_646+65del ENSP00000494614.2:n.646+64_646+65del
ENST00000652672.2:c.710_711del ENSP00000498906.2:p.Gln237ProfsTer2
ENST00000484087.6:c.664+64_664+65del ENSP00000419481.2:n.664+64_664+65del
ENST00000700182.1:c.706+64_706+65del ENSP00000514849.1:n.706+64_706+65del
ENST00000700183.1:c.*859_*860del ENSP00000514850.1:n.*859_*860del
ENST00000357654.9:c.851_852del MANE Select ENSP00000350283.3:p.Gln284ProfsTer2
ENST00000471181.7:c.851_852del ENSP00000418960.2:p.Gln284ProfsTer2
ENST00000642945.1:c.*725_*726del ENSP00000495897.1:n.*725_*726del
ENST00000652672.1:c.710_711del ENSP00000498906.1:p.Gln237ProfsTer2
ENST00000352993.7:c.670+1166_670+1167del ENSP00000312236.5:n.670+1166_670+1167del
ENST00000354071.7:c.851_852del ENSP00000326002.7:p.Gln284ProfsTer2
ENST00000357654.7:c.851_852del ENSP00000350283.3:p.Gln284ProfsTer2
ENST00000412061.3:c.202_203del
ENST00000461221.5:c.*634_*635del ENSP00000418548.1:n.*634_*635del
ENST00000468300.5:c.787+64_787+65del ENSP00000417148.1:n.787+64_787+65del
ENST00000470026.5:c.851_852del ENSP00000419274.1:p.Gln284ProfsTer2
ENST00000471181.6:c.851_852del ENSP00000418960.2:p.Gln284ProfsTer2
ENST00000473961.5:c.448_449del
ENST00000477152.5:c.773_774del ENSP00000419988.1:p.Gln258ProfsTer2
ENST00000478531.5:c.784+64_784+65del ENSP00000420412.1:n.784+64_784+65del
ENST00000484087.5:c.409+64_409+65del ENSP00000419481.1:n.409+64_409+65del
ENST00000487825.5:c.412+64_412+65del ENSP00000418212.1:n.412+64_412+65del
ENST00000491747.6:c.787+64_787+65del ENSP00000420705.2:n.787+64_787+65del
ENST00000492859.5:c.*787_*788del ENSP00000420253.1:n.*787_*788del
ENST00000493795.5:c.710_711del ENSP00000418775.1:p.Gln237ProfsTer2
ENST00000493919.5:c.646+64_646+65del ENSP00000418819.1:n.646+64_646+65del
ENST00000494123.5:c.851_852del ENSP00000419103.1:p.Gln284ProfsTer2
ENST00000497488.1:c.-38_-37del ENSP00000418986.1:n.-38_-37del
ENST00000586385.5:c.4+30502_4+30503del ENSP00000465818.1:n.4+30502_4+30503del
ENST00000591534.5:c.-43-20159_-43-20158del ENSP00000467329.1:n.-43-20159_-43-20158de...
ENST00000591849.5:c.-99+30591_-99+30592del ENSP00000465347.1:n.-99+30591_-99+30592de...
ENST00000634433.1:c.728_729del ENSP00000489431.1:p.Gln243ProfsTer2
NM_007294.3:c.851_852del , LRG_292t1:c.851_852del NP_009225.1:p.Gln284ProfsTer2
NM_007297.3:c.710_711del NP_009228.2:p.Gln237ProfsTer2
NM_007298.3:c.787+64_787+65del NP_009229.2:n.787+64_787+65del
NM_007299.3:c.787+64_787+65del NP_009230.2:n.787+64_787+65del
NM_007300.3:c.851_852del NP_009231.2:p.Gln284ProfsTer2
NR_027676.1:n.987_988del
NM_007294.4:c.851_852del MANE Select NP_009225.1:p.Gln284ProfsTer2
NM_007297.4:c.710_711del NP_009228.2:p.Gln237ProfsTer2
NM_007299.4:c.787+64_787+65del NP_009230.2:n.787+64_787+65del
NM_007300.4:c.851_852del NP_009231.2:p.Gln284ProfsTer2
NR_027676.2:n.1028_1029del
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