Canonical Allele Identifier: CA2260766359
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43057052_43057059delinsCTTTCTGT , CM000679.2:g.43057052_43057059delinsCTTTCTGT GRCh38
NC_000017.10:g.41209069_41209076delinsCTTTCTGT , CM000679.1:g.41209069_41209076delinsCTTTCTGT GRCh37
NC_000017.9:g.38462595_38462602delinsCTTTCTGT NCBI36
NG_005905.2:g.160925_160932delinsACAGAAAG , LRG_292:g.160925_160932delinsACAGAAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5267_5274delinsACAGAAAG ENSP00000417241.2:p.Asp1756=
ENST00000470026.6:c.5270_5277delinsACAGAAAG ENSP00000419274.2:p.Asp1757=
ENST00000473961.6:c.5144_5151delinsACAGAAAG ENSP00000420201.2:p.Asp1715=
ENST00000476777.6:c.5264_5271delinsACAGAAAG ENSP00000417554.2:p.Asp1755=
ENST00000477152.6:c.5192_5199delinsACAGAAAG ENSP00000419988.2:p.Asp1731=
ENST00000478531.6:c.1958_1965delinsACAGAAAG ENSP00000420412.2:p.Asp653=
ENST00000489037.2:c.5192_5199delinsACAGAAAG ENSP00000420781.2:p.Asp1731=
ENST00000493919.6:c.1820_1827delinsACAGAAAG ENSP00000418819.2:p.Asp607=
ENST00000494123.6:c.5270_5277delinsACAGAAAG ENSP00000419103.2:p.Asp1757=
ENST00000497488.2:c.4382_4389delinsACAGAAAG ENSP00000418986.2:p.Asp1461=
ENST00000618469.2:c.5270_5277delinsACAGAAAG ENSP00000478114.2:p.Asp1757=
ENST00000634433.2:c.5147_5154delinsACAGAAAG ENSP00000489431.2:p.Asp1716=
ENST00000644379.2:c.5336_5343delinsACAGAAAG ENSP00000496570.2:p.Asp1779=
ENST00000644555.2:c.1820_1827delinsACAGAAAG ENSP00000494614.2:p.Asp607=
ENST00000652672.2:c.5129_5136delinsACAGAAAG ENSP00000498906.2:p.Asp1710=
ENST00000484087.6:c.1832_1839delinsACAGAAAG ENSP00000419481.2:p.Asp611=
ENST00000357654.9:c.5270_5277delinsACAGAAAG MANE Select ENSP00000350283.3:p.Asp1757=
ENST00000471181.7:c.5333_5340delinsACAGAAAG ENSP00000418960.2:p.Asp1778=
ENST00000644379.1:c.1657_1664delinsACAGAAAG
ENST00000352993.7:c.1844_1851delinsACAGAAAG ENSP00000312236.5:p.Asp615=
ENST00000357654.7:c.5270_5277delinsACAGAAAG ENSP00000350283.3:p.Asp1757=
ENST00000461221.5:c.*5053_*5060delinsACAGAAAG ENSP00000418548.1:n.*5053_*5060delinsACAGAAAG
ENST00000468300.5:c.1958_1965delinsACAGAAAG ENSP00000417148.1:p.Asp653=
ENST00000471181.6:c.5333_5340delinsACAGAAAG ENSP00000418960.2:p.Asp1778=
ENST00000491747.6:c.1958_1965delinsACAGAAAG ENSP00000420705.2:p.Asp653=
ENST00000493795.5:c.5129_5136delinsACAGAAAG ENSP00000418775.1:p.Asp1710=
ENST00000586385.5:c.200_207delinsACAGAAAG ENSP00000465818.1:p.Asp67=
ENST00000591534.5:c.743_750delinsACAGAAAG ENSP00000467329.1:p.Asp248=
ENST00000591849.5:c.-98-6869_-98-6862delinsACAGAAAG ENSP00000465347.1:n.-98-6869_-98-6862delinsACAGAAAG
NM_007294.3:c.5270_5277delinsACAGAAAG , LRG_292t1:c.5270_5277delinsACAGAAAG NP_009225.1:p.Asp1757=
NM_007297.3:c.5129_5136delinsACAGAAAG NP_009228.2:p.Asp1710=
NM_007298.3:c.1958_1965delinsACAGAAAG NP_009229.2:p.Asp653=
NM_007299.3:c.1958_1965delinsACAGAAAG NP_009230.2:p.Asp653=
NM_007300.3:c.5333_5340delinsACAGAAAG NP_009231.2:p.Asp1778=
NR_027676.1:n.5406_5413delinsACAGAAAG
NM_007294.4:c.5270_5277delinsACAGAAAG MANE Select NP_009225.1:p.Asp1757=
NM_007297.4:c.5129_5136delinsACAGAAAG NP_009228.2:p.Asp1710=
NM_007299.4:c.1958_1965delinsACAGAAAG NP_009230.2:p.Asp653=
NM_007300.4:c.5333_5340delinsACAGAAAG NP_009231.2:p.Asp1778=
NR_027676.2:n.5447_5454delinsACAGAAAG