Canonical Allele Identifier: CA658798070
Community Standard Title: NM_007294.4(BRCA1):c.5137dup (p.Val1713GlyfsTer3)
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43063891dup , CM000679.2:g.43063891dup GRCh38
NC_000017.10:g.41215908dup , CM000679.1:g.41215908dup GRCh37
NC_000017.9:g.38469434dup NCBI36
NG_005905.2:g.154095dup , LRG_292:g.154095dup

Transcript Alleles

HGVS Amino-acid Change
NM_007294.4:c.5137dup MANE Select NP_009225.1:p.Val1713GlyfsTer3
ENST00000357654.9:c.5137dup MANE Select ENSP00000350283.3:p.Val1713GlyfsTer3
NM_007294.3:c.5137dup , LRG_292t1:c.5137dup NP_009225.1:p.Val1713GlyfsTer3
NM_007297.3:c.4996dup NP_009228.2:p.Val1666GlyfsTer3
NM_007297.4:c.4996dup NP_009228.2:p.Val1666GlyfsTer3
NM_007298.3:c.1825dup NP_009229.2:p.Val609GlyfsTer3
NM_007299.3:c.1825dup NP_009230.2:p.Val609GlyfsTer3
NM_007299.4:c.1825dup NP_009230.2:p.Val609GlyfsTer3
NM_007300.3:c.5200dup NP_009231.2:p.Val1734GlyfsTer3
NM_007300.4:c.5200dup NP_009231.2:p.Val1734GlyfsTer3
NR_027676.1:n.5273dup
NR_027676.2:n.5314dup
ENST00000352993.7:c.1711dup ENSP00000312236.5:p.Val571GlyfsTer3
ENST00000357654.7:c.5137dup ENSP00000350283.3:p.Val1713GlyfsTer3
ENST00000461221.5:c.*4920dup ENSP00000418548.1:n.*4920dup
ENST00000461574.2:c.5134dup ENSP00000417241.2:p.Val1712GlyfsTer3
ENST00000468300.5:c.1825dup ENSP00000417148.1:p.Val609GlyfsTer3
ENST00000470026.6:c.5137dup ENSP00000419274.2:p.Val1713GlyfsTer3
ENST00000471181.6:c.5200dup ENSP00000418960.2:p.Val1734GlyfsTer3
ENST00000471181.7:c.5200dup ENSP00000418960.2:p.Val1734GlyfsTer3
ENST00000473961.6:c.5011dup ENSP00000420201.2:p.Val1671GlyfsTer3
ENST00000476777.6:c.5131dup ENSP00000417554.2:p.Val1711GlyfsTer3
ENST00000477152.6:c.5059dup ENSP00000419988.2:p.Val1687GlyfsTer3
ENST00000478531.5:c.1825dup ENSP00000420412.1:p.Val609GlyfsTer3
ENST00000478531.6:c.1825dup ENSP00000420412.2:p.Val609GlyfsTer3
ENST00000484087.5:c.1450dup ENSP00000419481.1:p.Val484GlyfsTer3
ENST00000484087.6:c.1699dup ENSP00000419481.2:p.Val567GlyfsTer3
ENST00000489037.2:c.5059dup ENSP00000420781.2:p.Val1687GlyfsTer3
ENST00000491747.6:c.1825dup ENSP00000420705.2:p.Val609GlyfsTer3
ENST00000493795.5:c.4996dup ENSP00000418775.1:p.Val1666GlyfsTer3
ENST00000493919.5:c.1687dup ENSP00000418819.1:p.Val563GlyfsTer3
ENST00000493919.6:c.1687dup ENSP00000418819.2:p.Val563GlyfsTer3
ENST00000494123.6:c.5137dup ENSP00000419103.2:p.Val1713GlyfsTer3
ENST00000497488.2:c.4249dup ENSP00000418986.2:p.Val1417GlyfsTer3
ENST00000586385.5:c.67dup ENSP00000465818.1:p.Val23GlyfsTer3
ENST00000591534.5:c.610dup ENSP00000467329.1:p.Val204GlyfsTer3
ENST00000591849.5:c.-98-13699dup ENSP00000465347.1:n.-98-13699dup
ENST00000618469.2:c.5137dup ENSP00000478114.2:p.Val1713GlyfsTer3
ENST00000634433.2:c.5014dup ENSP00000489431.2:p.Val1672GlyfsTer3
ENST00000644379.1:c.1524dup
ENST00000644379.2:c.5203dup ENSP00000496570.2:p.Val1735GlyfsTer3
ENST00000644555.2:c.1687dup ENSP00000494614.2:p.Val563GlyfsTer3
ENST00000652672.2:c.4996dup ENSP00000498906.2:p.Val1666GlyfsTer3