Canonical Allele Identifier: CA003463
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 141536
dbSNP Id: rs587781825

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43051084_43051085del , CM000679.2:g.43051084_43051085del GRCh38
NC_000017.10:g.41203101_41203102del , CM000679.1:g.41203101_41203102del GRCh37
NC_000017.9:g.38456627_38456628del NCBI36
NG_005905.2:g.166899_166900del , LRG_292:g.166899_166900del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.5307_5308del ENSP00000417241.2:p.Pro1770LeufsTer?
ENST00000470026.6:c.5310_5311del ENSP00000419274.2:p.Pro1771LeufsTer?
ENST00000473961.6:c.5184_5185del ENSP00000420201.2:p.Pro1729LeufsTer?
ENST00000476777.6:c.5304_5305del ENSP00000417554.2:p.Pro1769LeufsTer?
ENST00000477152.6:c.5232_5233del ENSP00000419988.2:p.Pro1745LeufsTer?
ENST00000478531.6:c.1998_1999del ENSP00000420412.2:p.Pro667LeufsTer?
ENST00000489037.2:c.5232_5233del ENSP00000420781.2:p.Pro1745LeufsTer?
ENST00000493919.6:c.1860_1861del ENSP00000418819.2:p.Pro621LeufsTer?
ENST00000494123.6:c.5310_5311del ENSP00000419103.2:p.Pro1771LeufsTer?
ENST00000497488.2:c.4422_4423del ENSP00000418986.2:p.Pro1475LeufsTer?
ENST00000618469.2:c.5310_5311del ENSP00000478114.2:p.Pro1771LeufsTer?
ENST00000634433.2:c.5187_5188del ENSP00000489431.2:p.Pro1730LeufsTer?
ENST00000644379.2:c.5376_5377del ENSP00000496570.2:p.Pro1793LeufsTer?
ENST00000644555.2:c.1860_1861del ENSP00000494614.2:p.Pro621LeufsTer?
ENST00000652672.2:c.5169_5170del ENSP00000498906.2:p.Pro1724LeufsTer?
ENST00000484087.6:c.1872_1873del ENSP00000419481.2:p.Pro625LeufsTer?
ENST00000357654.9:c.5310_5311del MANE Select ENSP00000350283.3:p.Pro1771LeufsTer?
ENST00000471181.7:c.5373_5374del ENSP00000418960.2:p.Pro1792LeufsTer?
ENST00000644379.1:c.1697_1698del
ENST00000352993.7:c.1884_1885del ENSP00000312236.5:p.Pro629LeufsTer?
ENST00000357654.7:c.5310_5311del ENSP00000350283.3:p.Pro1771LeufsTer?
ENST00000461221.5:c.*5093_*5094del ENSP00000418548.1:n.*5093_*5094del
ENST00000468300.5:c.1998_1999del ENSP00000417148.1:p.Pro667LeufsTer?
ENST00000471181.6:c.5373_5374del ENSP00000418960.2:p.Pro1792LeufsTer?
ENST00000491747.6:c.1998_1999del ENSP00000420705.2:p.Pro667LeufsTer?
ENST00000493795.5:c.5169_5170del ENSP00000418775.1:p.Pro1724LeufsTer?
ENST00000586385.5:c.240_241del ENSP00000465818.1:p.Pro81LeufsTer?
ENST00000591534.5:c.783_784del ENSP00000467329.1:p.Pro262LeufsTer?
ENST00000591849.5:c.-98-895_-98-894del ENSP00000465347.1:n.-98-895_-98-894del
NM_007294.3:c.5310_5311del , LRG_292t1:c.5310_5311del NP_009225.1:p.Pro1771LeufsTer?
NM_007297.3:c.5169_5170del NP_009228.2:p.Pro1724LeufsTer?
NM_007298.3:c.1998_1999del NP_009229.2:p.Pro667LeufsTer?
NM_007299.3:c.1998_1999del NP_009230.2:p.Pro667LeufsTer?
NM_007300.3:c.5373_5374del NP_009231.2:p.Pro1792LeufsTer?
NR_027676.1:n.5446_5447del
NM_007294.4:c.5310_5311del MANE Select NP_009225.1:p.Pro1771LeufsTer?
NM_007297.4:c.5169_5170del NP_009228.2:p.Pro1724LeufsTer?
NM_007299.4:c.1998_1999del NP_009230.2:p.Pro667LeufsTer?
NM_007300.4:c.5373_5374del NP_009231.2:p.Pro1792LeufsTer?
NR_027676.2:n.5487_5488del