Canonical Allele Identifier: CA2580093949
Community Standard Title: NM_007294.4(BRCA1):c.5127_5137del (p.Gly1710SerfsTer2)
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43063892_43063902del , CM000679.2:g.43063892_43063902del GRCh38
NC_000017.10:g.41215909_41215919del , CM000679.1:g.41215909_41215919del GRCh37
NC_000017.9:g.38469435_38469445del NCBI36
NG_005905.2:g.154085_154095del , LRG_292:g.154085_154095del

Transcript Alleles

HGVS Amino-acid Change
NM_007294.4:c.5127_5137del MANE Select NP_009225.1:p.Gly1710SerfsTer2
ENST00000357654.9:c.5127_5137del MANE Select ENSP00000350283.3:p.Gly1710SerfsTer2
NM_007294.3:c.5127_5137del , LRG_292t1:c.5127_5137del NP_009225.1:p.Gly1710SerfsTer2
NM_007297.3:c.4986_4996del NP_009228.2:p.Gly1663SerfsTer2
NM_007297.4:c.4986_4996del NP_009228.2:p.Gly1663SerfsTer2
NM_007298.3:c.1815_1825del NP_009229.2:p.Gly606SerfsTer2
NM_007299.3:c.1815_1825del NP_009230.2:p.Gly606SerfsTer2
NM_007299.4:c.1815_1825del NP_009230.2:p.Gly606SerfsTer2
NM_007300.3:c.5190_5200del NP_009231.2:p.Gly1731SerfsTer2
NM_007300.4:c.5190_5200del NP_009231.2:p.Gly1731SerfsTer2
NR_027676.1:n.5263_5273del
NR_027676.2:n.5304_5314del
ENST00000352993.7:c.1701_1711del ENSP00000312236.5:p.Gly568SerfsTer2
ENST00000357654.7:c.5127_5137del ENSP00000350283.3:p.Gly1710SerfsTer2
ENST00000461221.5:c.*4910_*4920del ENSP00000418548.1:n.*4910_*4920del
ENST00000461574.2:c.5124_5134del ENSP00000417241.2:p.Gly1709SerfsTer2
ENST00000468300.5:c.1815_1825del ENSP00000417148.1:p.Gly606SerfsTer2
ENST00000470026.6:c.5127_5137del ENSP00000419274.2:p.Gly1710SerfsTer2
ENST00000471181.6:c.5190_5200del ENSP00000418960.2:p.Gly1731SerfsTer2
ENST00000471181.7:c.5190_5200del ENSP00000418960.2:p.Gly1731SerfsTer2
ENST00000473961.6:c.5001_5011del ENSP00000420201.2:p.Gly1668SerfsTer2
ENST00000476777.6:c.5121_5131del ENSP00000417554.2:p.Gly1708SerfsTer2
ENST00000477152.6:c.5049_5059del ENSP00000419988.2:p.Gly1684SerfsTer2
ENST00000478531.5:c.1815_1825del ENSP00000420412.1:p.Gly606SerfsTer2
ENST00000478531.6:c.1815_1825del ENSP00000420412.2:p.Gly606SerfsTer2
ENST00000484087.5:c.1440_1450del ENSP00000419481.1:p.Gly481SerfsTer2
ENST00000484087.6:c.1689_1699del ENSP00000419481.2:p.Gly564SerfsTer2
ENST00000489037.2:c.5049_5059del ENSP00000420781.2:p.Gly1684SerfsTer2
ENST00000491747.6:c.1815_1825del ENSP00000420705.2:p.Gly606SerfsTer2
ENST00000493795.5:c.4986_4996del ENSP00000418775.1:p.Gly1663SerfsTer2
ENST00000493919.5:c.1677_1687del ENSP00000418819.1:p.Gly560SerfsTer2
ENST00000493919.6:c.1677_1687del ENSP00000418819.2:p.Gly560SerfsTer2
ENST00000494123.6:c.5127_5137del ENSP00000419103.2:p.Gly1710SerfsTer2
ENST00000497488.2:c.4239_4249del ENSP00000418986.2:p.Gly1414SerfsTer2
ENST00000586385.5:c.57_67del ENSP00000465818.1:p.Gly20SerfsTer2
ENST00000591534.5:c.600_610del ENSP00000467329.1:p.Gly201SerfsTer2
ENST00000591849.5:c.-98-13709_-98-13699del ENSP00000465347.1:n.-98-13709_-98-13699del
ENST00000618469.2:c.5127_5137del ENSP00000478114.2:p.Gly1710SerfsTer2
ENST00000634433.2:c.5004_5014del ENSP00000489431.2:p.Gly1669SerfsTer2
ENST00000644379.1:c.1514_1524del
ENST00000644379.2:c.5193_5203del ENSP00000496570.2:p.Gly1732SerfsTer2
ENST00000644555.2:c.1677_1687del ENSP00000494614.2:p.Gly560SerfsTer2
ENST00000652672.2:c.4986_4996del ENSP00000498906.2:p.Gly1663SerfsTer2