Canonical Allele Identifier: CA2260766364

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057054_43057061delinsTTCTGTCC , CM000679.2:g.43057054_43057061delinsTTCTGTCC	GRCh38
NC_000017.10:g.41209071_41209078delinsTTCTGTCC , CM000679.1:g.41209071_41209078delinsTTCTGTCC	GRCh37
NC_000017.9:g.38462597_38462604delinsTTCTGTCC	NCBI36
NG_005905.2:g.160923_160930delinsGGACAGAA , LRG_292:g.160923_160930delinsGGACAGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5265_5272delinsGGACAGAA	ENSP00000417241.2:p.Gln1755=
ENST00000470026.6:c.5268_5275delinsGGACAGAA	ENSP00000419274.2:p.Gln1756=
ENST00000473961.6:c.5142_5149delinsGGACAGAA	ENSP00000420201.2:p.Gln1714=
ENST00000476777.6:c.5262_5269delinsGGACAGAA	ENSP00000417554.2:p.Gln1754=
ENST00000477152.6:c.5190_5197delinsGGACAGAA	ENSP00000419988.2:p.Gln1730=
ENST00000478531.6:c.1956_1963delinsGGACAGAA	ENSP00000420412.2:p.Gln652=
ENST00000489037.2:c.5190_5197delinsGGACAGAA	ENSP00000420781.2:p.Gln1730=
ENST00000493919.6:c.1818_1825delinsGGACAGAA	ENSP00000418819.2:p.Gln606=
ENST00000494123.6:c.5268_5275delinsGGACAGAA	ENSP00000419103.2:p.Gln1756=
ENST00000497488.2:c.4380_4387delinsGGACAGAA	ENSP00000418986.2:p.Gln1460=
ENST00000618469.2:c.5268_5275delinsGGACAGAA	ENSP00000478114.2:p.Gln1756=
ENST00000634433.2:c.5145_5152delinsGGACAGAA	ENSP00000489431.2:p.Gln1715=
ENST00000644379.2:c.5334_5341delinsGGACAGAA	ENSP00000496570.2:p.Gln1778=
ENST00000644555.2:c.1818_1825delinsGGACAGAA	ENSP00000494614.2:p.Gln606=
ENST00000652672.2:c.5127_5134delinsGGACAGAA	ENSP00000498906.2:p.Gln1709=
ENST00000484087.6:c.1830_1837delinsGGACAGAA	ENSP00000419481.2:p.Gln610=
ENST00000357654.9:c.5268_5275delinsGGACAGAA MANE Select	ENSP00000350283.3:p.Gln1756=
ENST00000471181.7:c.5331_5338delinsGGACAGAA	ENSP00000418960.2:p.Gln1777=
ENST00000644379.1:c.1655_1662delinsGGACAGAA
ENST00000352993.7:c.1842_1849delinsGGACAGAA	ENSP00000312236.5:p.Gln614=
ENST00000357654.7:c.5268_5275delinsGGACAGAA	ENSP00000350283.3:p.Gln1756=
ENST00000461221.5:c.*5051_*5058delinsGGACAGAA	ENSP00000418548.1:n.*5051_*5058delinsGGACAGAA
ENST00000468300.5:c.1956_1963delinsGGACAGAA	ENSP00000417148.1:p.Gln652=
ENST00000471181.6:c.5331_5338delinsGGACAGAA	ENSP00000418960.2:p.Gln1777=
ENST00000491747.6:c.1956_1963delinsGGACAGAA	ENSP00000420705.2:p.Gln652=
ENST00000493795.5:c.5127_5134delinsGGACAGAA	ENSP00000418775.1:p.Gln1709=
ENST00000586385.5:c.198_205delinsGGACAGAA	ENSP00000465818.1:p.Gln66=
ENST00000591534.5:c.741_748delinsGGACAGAA	ENSP00000467329.1:p.Gln247=
ENST00000591849.5:c.-98-6871_-98-6864delinsGGACAGAA	ENSP00000465347.1:n.-98-6871_-98-6864delinsGGACAGAA
NM_007294.3:c.5268_5275delinsGGACAGAA , LRG_292t1:c.5268_5275delinsGGACAGAA	NP_009225.1:p.Gln1756=
NM_007297.3:c.5127_5134delinsGGACAGAA	NP_009228.2:p.Gln1709=
NM_007298.3:c.1956_1963delinsGGACAGAA	NP_009229.2:p.Gln652=
NM_007299.3:c.1956_1963delinsGGACAGAA	NP_009230.2:p.Gln652=
NM_007300.3:c.5331_5338delinsGGACAGAA	NP_009231.2:p.Gln1777=
NR_027676.1:n.5404_5411delinsGGACAGAA
NM_007294.4:c.5268_5275delinsGGACAGAA MANE Select	NP_009225.1:p.Gln1756=
NM_007297.4:c.5127_5134delinsGGACAGAA	NP_009228.2:p.Gln1709=
NM_007299.4:c.1956_1963delinsGGACAGAA	NP_009230.2:p.Gln652=
NM_007300.4:c.5331_5338delinsGGACAGAA	NP_009231.2:p.Gln1777=
NR_027676.2:n.5445_5452delinsGGACAGAA