Canonical Allele Identifier: CA2260784059
Gene: BRCA1 HGNC NCBI

Linked Data

dbSNP Id: rs2053843916

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43093525_43093526insAGAGAAGAAAAAGA , CM000679.2:g.43093525_43093526insAGAGAAGAAAAAGA GRCh38
NC_000017.10:g.41245542_41245543insAGAGAAGAAAAAGA , CM000679.1:g.41245542_41245543insAGAGAAGAAAAAGA GRCh37
NC_000017.9:g.38499068_38499069insAGAGAAGAAAAAGA NCBI36
NG_005905.2:g.124459_124460insCTTTTTCTTCTCTT , LRG_292:g.124459_124460insCTTTTTCTTCTCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.2070_2071insCTTTTTCTTCTCTT
ENST00000461574.2:c.2006_2007insCTTTTTCTTCTCTT ENSP00000417241.2:p.Met669IlefsTer?
ENST00000470026.6:c.2006_2007insCTTTTTCTTCTCTT ENSP00000419274.2:p.Met669IlefsTer?
ENST00000473961.6:c.1880_1881insCTTTTTCTTCTCTT ENSP00000420201.2:p.Met627IlefsTer?
ENST00000476777.6:c.2003_2004insCTTTTTCTTCTCTT ENSP00000417554.2:p.Met668IlefsTer?
ENST00000477152.6:c.1928_1929insCTTTTTCTTCTCTT ENSP00000419988.2:p.Met643IlefsTer?
ENST00000478531.6:c.784+1219_784+1220insCTTTTTCTTCTCTT ENSP00000420412.2:n.784+1219_784+1220insCTTTTTCTTCTCTT
ENST00000489037.2:c.1928_1929insCTTTTTCTTCTCTT ENSP00000420781.2:p.Met643IlefsTer?
ENST00000493919.6:c.646+1219_646+1220insCTTTTTCTTCTCTT ENSP00000418819.2:n.646+1219_646+1220insCTTTTTCTTCTCTT
ENST00000494123.6:c.2006_2007insCTTTTTCTTCTCTT ENSP00000419103.2:p.Met669IlefsTer?
ENST00000497488.2:c.1118_1119insCTTTTTCTTCTCTT ENSP00000418986.2:p.Met373IlefsTer?
ENST00000618469.2:c.2006_2007insCTTTTTCTTCTCTT ENSP00000478114.2:p.Met669IlefsTer?
ENST00000634433.2:c.1883_1884insCTTTTTCTTCTCTT ENSP00000489431.2:p.Met628IlefsTer?
ENST00000644379.2:c.2006_2007insCTTTTTCTTCTCTT ENSP00000496570.2:p.Met669IlefsTer?
ENST00000644555.2:c.646+1219_646+1220insCTTTTTCTTCTCTT ENSP00000494614.2:n.646+1219_646+1220insCTTTTTCTTCTCTT
ENST00000652672.2:c.1865_1866insCTTTTTCTTCTCTT ENSP00000498906.2:p.Met622IlefsTer?
ENST00000484087.6:c.664+1219_664+1220insCTTTTTCTTCTCTT ENSP00000419481.2:n.664+1219_664+1220insCTTTTTCTTCTCTT
ENST00000700182.1:c.706+1219_706+1220insCTTTTTCTTCTCTT ENSP00000514849.1:n.706+1219_706+1220insCTTTTTCTTCTCTT
ENST00000357654.9:c.2006_2007insCTTTTTCTTCTCTT MANE Select ENSP00000350283.3:p.Met669IlefsTer?
ENST00000471181.7:c.2006_2007insCTTTTTCTTCTCTT ENSP00000418960.2:p.Met669IlefsTer?
ENST00000352993.7:c.670+2321_670+2322insCTTTTTCTTCTCTT ENSP00000312236.5:n.670+2321_670+2322insCTTTTTCTTCTCTT
ENST00000354071.7:c.2006_2007insCTTTTTCTTCTCTT ENSP00000326002.7:p.Met669IlefsTer?
ENST00000357654.7:c.2006_2007insCTTTTTCTTCTCTT ENSP00000350283.3:p.Met669IlefsTer?
ENST00000461221.5:c.*1789_*1790insCTTTTTCTTCTCTT ENSP00000418548.1:n.*1789_*1790insCTTTTTCTTCTCTT
ENST00000468300.5:c.787+1219_787+1220insCTTTTTCTTCTCTT ENSP00000417148.1:n.787+1219_787+1220insCTTTTTCTTCTCTT
ENST00000471181.6:c.2006_2007insCTTTTTCTTCTCTT ENSP00000418960.2:p.Met669IlefsTer?
ENST00000478531.5:c.784+1219_784+1220insCTTTTTCTTCTCTT ENSP00000420412.1:n.784+1219_784+1220insCTTTTTCTTCTCTT
ENST00000484087.5:c.409+1219_409+1220insCTTTTTCTTCTCTT ENSP00000419481.1:n.409+1219_409+1220insCTTTTTCTTCTCTT
ENST00000487825.5:c.412+1219_412+1220insCTTTTTCTTCTCTT ENSP00000418212.1:n.412+1219_412+1220insCTTTTTCTTCTCTT
ENST00000491747.6:c.787+1219_787+1220insCTTTTTCTTCTCTT ENSP00000420705.2:n.787+1219_787+1220insCTTTTTCTTCTCTT
ENST00000493795.5:c.1865_1866insCTTTTTCTTCTCTT ENSP00000418775.1:p.Met622IlefsTer?
ENST00000493919.5:c.646+1219_646+1220insCTTTTTCTTCTCTT ENSP00000418819.1:n.646+1219_646+1220insCTTTTTCTTCTCTT
ENST00000586385.5:c.5-29574_5-29573insCTTTTTCTTCTCTT ENSP00000465818.1:n.5-29574_5-29573insCTTTTTCTTCTCTT
ENST00000591534.5:c.-43-19004_-43-19003insCTTTTTCTTCTCTT ENSP00000467329.1:n.-43-19004_-43-19003insCTTTTTCTTCTCTT
ENST00000591849.5:c.-99+31746_-99+31747insCTTTTTCTTCTCTT ENSP00000465347.1:n.-99+31746_-99+31747insCTTTTTCTTCTCTT
ENST00000634433.1:c.1883_1884insCTTTTTCTTCTCTT ENSP00000489431.1:p.Met628IlefsTer?
NM_007294.3:c.2006_2007insCTTTTTCTTCTCTT , LRG_292t1:c.2006_2007insCTTTTTCTTCTCTT NP_009225.1:p.Met669IlefsTer?
NM_007297.3:c.1865_1866insCTTTTTCTTCTCTT NP_009228.2:p.Met622IlefsTer?
NM_007298.3:c.787+1219_787+1220insCTTTTTCTTCTCTT NP_009229.2:n.787+1219_787+1220insCTTTTTCTTCTCTT
NM_007299.3:c.787+1219_787+1220insCTTTTTCTTCTCTT NP_009230.2:n.787+1219_787+1220insCTTTTTCTTCTCTT
NM_007300.3:c.2006_2007insCTTTTTCTTCTCTT NP_009231.2:p.Met669IlefsTer?
NR_027676.1:n.2142_2143insCTTTTTCTTCTCTT
NM_007294.4:c.2006_2007insCTTTTTCTTCTCTT MANE Select NP_009225.1:p.Met669IlefsTer?
NM_007297.4:c.1865_1866insCTTTTTCTTCTCTT NP_009228.2:p.Met622IlefsTer?
NM_007299.4:c.787+1219_787+1220insCTTTTTCTTCTCTT NP_009230.2:n.787+1219_787+1220insCTTTTTCTTCTCTT
NM_007300.4:c.2006_2007insCTTTTTCTTCTCTT NP_009231.2:p.Met669IlefsTer?
NR_027676.2:n.2183_2184insCTTTTTCTTCTCTT