Canonical Allele Identifier: CA983876123
Gene: BRCA1 HGNC NCBI

Linked Data

dbSNP Id: rs2052097983

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43066833_43066835del , CM000679.2:g.43066833_43066835del GRCh38
NC_000017.10:g.41218850_41218852del , CM000679.1:g.41218850_41218852del GRCh37
NC_000017.9:g.38472376_38472378del NCBI36
NG_005905.2:g.151149_151151del , LRG_292:g.151149_151151del

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5071+773_5071+775del ENSP00000417241.2:n.5071+773_5071+775del
ENST00000470026.6:c.5074+773_5074+775del ENSP00000419274.2:n.5074+773_5074+775del
ENST00000473961.6:c.4948+773_4948+775del ENSP00000420201.2:n.4948+773_4948+775del
ENST00000476777.6:c.5068+773_5068+775del ENSP00000417554.2:n.5068+773_5068+775del
ENST00000477152.6:c.4996+773_4996+775del ENSP00000419988.2:n.4996+773_4996+775del
ENST00000478531.6:c.1762+773_1762+775del ENSP00000420412.2:n.1762+773_1762+775del
ENST00000489037.2:c.4996+773_4996+775del ENSP00000420781.2:n.4996+773_4996+775del
ENST00000493919.6:c.1624+773_1624+775del ENSP00000418819.2:n.1624+773_1624+775del
ENST00000494123.6:c.5074+773_5074+775del ENSP00000419103.2:n.5074+773_5074+775del
ENST00000497488.2:c.4186+773_4186+775del ENSP00000418986.2:n.4186+773_4186+775del
ENST00000618469.2:c.5074+773_5074+775del ENSP00000478114.2:n.5074+773_5074+775del
ENST00000634433.2:c.4951+773_4951+775del ENSP00000489431.2:n.4951+773_4951+775del
ENST00000644379.2:c.5140+773_5140+775del ENSP00000496570.2:n.5140+773_5140+775del
ENST00000644555.2:c.1624+773_1624+775del ENSP00000494614.2:n.1624+773_1624+775del
ENST00000652672.2:c.4933+773_4933+775del ENSP00000498906.2:n.4933+773_4933+775del
ENST00000484087.6:c.1636+773_1636+775del ENSP00000419481.2:n.1636+773_1636+775del
ENST00000357654.9:c.5074+773_5074+775del MANE Select ENSP00000350283.3:n.5074+773_5074+775del
ENST00000471181.7:c.5137+773_5137+775del ENSP00000418960.2:n.5137+773_5137+775del
ENST00000644379.1:c.1461+773_1461+775del
ENST00000352993.7:c.1648+773_1648+775del ENSP00000312236.5:n.1648+773_1648+775del
ENST00000357654.7:c.5074+773_5074+775del ENSP00000350283.3:n.5074+773_5074+775del
ENST00000461221.5:c.*4857+773_*4857+775del ENSP00000418548.1:n.*4857+773_*4857+775del
ENST00000468300.5:c.1762+773_1762+775del ENSP00000417148.1:n.1762+773_1762+775del
ENST00000471181.6:c.5137+773_5137+775del ENSP00000418960.2:n.5137+773_5137+775del
ENST00000478531.5:c.1762+773_1762+775del ENSP00000420412.1:n.1762+773_1762+775del
ENST00000484087.5:c.1387+773_1387+775del ENSP00000419481.1:n.1387+773_1387+775del
ENST00000491747.6:c.1762+773_1762+775del ENSP00000420705.2:n.1762+773_1762+775del
ENST00000493795.5:c.4933+773_4933+775del ENSP00000418775.1:n.4933+773_4933+775del
ENST00000493919.5:c.1624+773_1624+775del ENSP00000418819.1:n.1624+773_1624+775del
ENST00000586385.5:c.5-2884_5-2882del ENSP00000465818.1:n.5-2884_5-2882del
ENST00000591534.5:c.547+773_547+775del ENSP00000467329.1:n.547+773_547+775del
ENST00000591849.5:c.-98-16645_-98-16643del ENSP00000465347.1:n.-98-16645_-98-16643del
NM_007294.3:c.5074+773_5074+775del , LRG_292t1:c.5074+773_5074+775del NP_009225.1:n.5074+773_5074+775del
NM_007297.3:c.4933+773_4933+775del NP_009228.2:n.4933+773_4933+775del
NM_007298.3:c.1762+773_1762+775del NP_009229.2:n.1762+773_1762+775del
NM_007299.3:c.1762+773_1762+775del NP_009230.2:n.1762+773_1762+775del
NM_007300.3:c.5137+773_5137+775del NP_009231.2:n.5137+773_5137+775del
NR_027676.1:n.5210+773_5210+775del
NM_007294.4:c.5074+773_5074+775del MANE Select NP_009225.1:n.5074+773_5074+775del
NM_007297.4:c.4933+773_4933+775del NP_009228.2:n.4933+773_4933+775del
NM_007299.4:c.1762+773_1762+775del NP_009230.2:n.1762+773_1762+775del
NM_007300.4:c.5137+773_5137+775del NP_009231.2:n.5137+773_5137+775del
NR_027676.2:n.5251+773_5251+775del