Canonical Allele Identifier: CA2963270431
Community Standard Title: NM_007294.4(BRCA1):c.5139_5140insAAT (p.Val1713_Val1714insAsn)
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43063886_43063887insATT , CM000679.2:g.43063886_43063887insATT GRCh38
NC_000017.10:g.41215903_41215904insATT , CM000679.1:g.41215903_41215904insATT GRCh37
NC_000017.9:g.38469429_38469430insATT NCBI36
NG_005905.2:g.154097_154098insAAT , LRG_292:g.154097_154098insAAT

Transcript Alleles

HGVS Amino-acid Change
NM_007294.4:c.5139_5140insAAT MANE Select NP_009225.1:p.Val1713_Val1714insAsn
ENST00000357654.9:c.5139_5140insAAT MANE Select ENSP00000350283.3:p.Val1713_Val1714insAsn
NM_007294.3:c.5139_5140insAAT , LRG_292t1:c.5139_5140insAAT NP_009225.1:p.Val1713_Val1714insAsn
NM_007297.3:c.4998_4999insAAT NP_009228.2:p.Val1666_Val1667insAsn
NM_007297.4:c.4998_4999insAAT NP_009228.2:p.Val1666_Val1667insAsn
NM_007298.3:c.1827_1828insAAT NP_009229.2:p.Val609_Val610insAsn
NM_007299.3:c.1827_1828insAAT NP_009230.2:p.Val609_Val610insAsn
NM_007299.4:c.1827_1828insAAT NP_009230.2:p.Val609_Val610insAsn
NM_007300.3:c.5202_5203insAAT NP_009231.2:p.Val1734_Val1735insAsn
NM_007300.4:c.5202_5203insAAT NP_009231.2:p.Val1734_Val1735insAsn
NR_027676.1:n.5275_5276insAAT
NR_027676.2:n.5316_5317insAAT
ENST00000352993.7:c.1713_1714insAAT ENSP00000312236.5:p.Val571_Val572insAsn
ENST00000357654.7:c.5139_5140insAAT ENSP00000350283.3:p.Val1713_Val1714insAsn
ENST00000461221.5:c.*4922_*4923insAAT ENSP00000418548.1:n.*4922_*4923insAAT
ENST00000461574.2:c.5136_5137insAAT ENSP00000417241.2:p.Val1712_Val1713insAsn
ENST00000468300.5:c.1827_1828insAAT ENSP00000417148.1:p.Val609_Val610insAsn
ENST00000470026.6:c.5139_5140insAAT ENSP00000419274.2:p.Val1713_Val1714insAsn
ENST00000471181.6:c.5202_5203insAAT ENSP00000418960.2:p.Val1734_Val1735insAsn
ENST00000471181.7:c.5202_5203insAAT ENSP00000418960.2:p.Val1734_Val1735insAsn
ENST00000473961.6:c.5013_5014insAAT ENSP00000420201.2:p.Val1671_Val1672insAsn
ENST00000476777.6:c.5133_5134insAAT ENSP00000417554.2:p.Val1711_Val1712insAsn
ENST00000477152.6:c.5061_5062insAAT ENSP00000419988.2:p.Val1687_Val1688insAsn
ENST00000478531.5:c.1827_1828insAAT ENSP00000420412.1:p.Val609_Val610insAsn
ENST00000478531.6:c.1827_1828insAAT ENSP00000420412.2:p.Val609_Val610insAsn
ENST00000484087.5:c.1452_1453insAAT ENSP00000419481.1:p.Val484_Val485insAsn
ENST00000484087.6:c.1701_1702insAAT ENSP00000419481.2:p.Val567_Val568insAsn
ENST00000489037.2:c.5061_5062insAAT ENSP00000420781.2:p.Val1687_Val1688insAsn
ENST00000491747.6:c.1827_1828insAAT ENSP00000420705.2:p.Val609_Val610insAsn
ENST00000493795.5:c.4998_4999insAAT ENSP00000418775.1:p.Val1666_Val1667insAsn
ENST00000493919.5:c.1689_1690insAAT ENSP00000418819.1:p.Val563_Val564insAsn
ENST00000493919.6:c.1689_1690insAAT ENSP00000418819.2:p.Val563_Val564insAsn
ENST00000494123.6:c.5139_5140insAAT ENSP00000419103.2:p.Val1713_Val1714insAsn
ENST00000497488.2:c.4251_4252insAAT ENSP00000418986.2:p.Val1417_Val1418insAsn
ENST00000586385.5:c.69_70insAAT ENSP00000465818.1:p.Val23_Val24insAsn
ENST00000591534.5:c.612_613insAAT ENSP00000467329.1:p.Val204_Val205insAsn
ENST00000591849.5:c.-98-13697_-98-13696insAAT ENSP00000465347.1:n.-98-13697_-98-13696insAAT
ENST00000618469.2:c.5139_5140insAAT ENSP00000478114.2:p.Val1713_Val1714insAsn
ENST00000634433.2:c.5016_5017insAAT ENSP00000489431.2:p.Val1672_Val1673insAsn
ENST00000644379.1:c.1526_1527insAAT
ENST00000644379.2:c.5205_5206insAAT ENSP00000496570.2:p.Val1735_Val1736insAsn
ENST00000644555.2:c.1689_1690insAAT ENSP00000494614.2:p.Val563_Val564insAsn
ENST00000652672.2:c.4998_4999insAAT ENSP00000498906.2:p.Val1666_Val1667insAsn