Canonical Allele Identifier: CA2695225943

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091456_43091457dup , CM000679.2:g.43091456_43091457dup	GRCh38
NC_000017.10:g.41243473_41243474dup , CM000679.1:g.41243473_41243474dup	GRCh37
NC_000017.9:g.38496999_38497000dup	NCBI36
NG_005905.2:g.126527_126528dup , LRG_292:g.126527_126528dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.4138_4139dup
ENST00000461574.2:c.4074_4075dup	ENSP00000417241.2:p.Gln1359ArgfsTer8
ENST00000470026.6:c.4074_4075dup	ENSP00000419274.2:p.Gln1359ArgfsTer8
ENST00000473961.6:c.3948_3949dup	ENSP00000420201.2:p.Gln1317ArgfsTer8
ENST00000476777.6:c.4071_4072dup	ENSP00000417554.2:p.Gln1358ArgfsTer8
ENST00000477152.6:c.3996_3997dup	ENSP00000419988.2:p.Gln1333ArgfsTer8
ENST00000478531.6:c.785-425_785-424dup	ENSP00000420412.2:n.785-425_785-424dup
ENST00000489037.2:c.3996_3997dup	ENSP00000420781.2:p.Gln1333ArgfsTer8
ENST00000493919.6:c.647-425_647-424dup	ENSP00000418819.2:n.647-425_647-424dup
ENST00000494123.6:c.4074_4075dup	ENSP00000419103.2:p.Gln1359ArgfsTer8
ENST00000497488.2:c.3186_3187dup	ENSP00000418986.2:p.Gln1063ArgfsTer8
ENST00000618469.2:c.4074_4075dup	ENSP00000478114.2:p.Gln1359ArgfsTer8
ENST00000634433.2:c.3951_3952dup	ENSP00000489431.2:p.Gln1318ArgfsTer8
ENST00000644379.2:c.4074_4075dup	ENSP00000496570.2:p.Gln1359ArgfsTer8
ENST00000644555.2:c.647-425_647-424dup	ENSP00000494614.2:n.647-425_647-424dup
ENST00000652672.2:c.3933_3934dup	ENSP00000498906.2:p.Gln1312ArgfsTer8
ENST00000484087.6:c.665-425_665-424dup	ENSP00000419481.2:n.665-425_665-424dup
ENST00000700182.1:c.707-425_707-424dup	ENSP00000514849.1:n.707-425_707-424dup
ENST00000357654.9:c.4074_4075dup MANE Select	ENSP00000350283.3:p.Gln1359ArgfsTer8
ENST00000471181.7:c.4074_4075dup	ENSP00000418960.2:p.Gln1359ArgfsTer8
ENST00000644379.1:c.395_396dup
ENST00000352993.7:c.671-425_671-424dup	ENSP00000312236.5:n.671-425_671-424dup
ENST00000354071.7:c.4074_4075dup	ENSP00000326002.7:p.Gln1359ArgfsTer8
ENST00000357654.7:c.4074_4075dup	ENSP00000350283.3:p.Gln1359ArgfsTer8
ENST00000461221.5:c.*3857_*3858dup	ENSP00000418548.1:n.*3857_*3858dup
ENST00000461574.1:c.368_369dup
ENST00000468300.5:c.788-425_788-424dup	ENSP00000417148.1:n.788-425_788-424dup
ENST00000471181.6:c.4074_4075dup	ENSP00000418960.2:p.Gln1359ArgfsTer8
ENST00000478531.5:c.785-425_785-424dup	ENSP00000420412.1:n.785-425_785-424dup
ENST00000484087.5:c.410-425_410-424dup	ENSP00000419481.1:n.410-425_410-424dup
ENST00000487825.5:c.413-425_413-424dup	ENSP00000418212.1:n.413-425_413-424dup
ENST00000491747.6:c.788-425_788-424dup	ENSP00000420705.2:n.788-425_788-424dup
ENST00000493795.5:c.3933_3934dup	ENSP00000418775.1:p.Gln1312ArgfsTer8
ENST00000493919.5:c.647-425_647-424dup	ENSP00000418819.1:n.647-425_647-424dup
ENST00000586385.5:c.5-27506_5-27505dup	ENSP00000465818.1:n.5-27506_5-27505dup
ENST00000591534.5:c.-43-16936_-43-16935dup	ENSP00000467329.1:n.-43-16936_-43-16935dup
ENST00000591849.5:c.-99+33814_-99+33815dup	ENSP00000465347.1:n.-99+33814_-99+33815dup
NM_007294.3:c.4074_4075dup , LRG_292t1:c.4074_4075dup	NP_009225.1:p.Gln1359ArgfsTer8
NM_007297.3:c.3933_3934dup	NP_009228.2:p.Gln1312ArgfsTer8
NM_007298.3:c.788-425_788-424dup	NP_009229.2:n.788-425_788-424dup
NM_007299.3:c.788-425_788-424dup	NP_009230.2:n.788-425_788-424dup
NM_007300.3:c.4074_4075dup	NP_009231.2:p.Gln1359ArgfsTer8
NR_027676.1:n.4210_4211dup
NM_007294.4:c.4074_4075dup MANE Select	NP_009225.1:p.Gln1359ArgfsTer8
NM_007297.4:c.3933_3934dup	NP_009228.2:p.Gln1312ArgfsTer8
NM_007299.4:c.788-425_788-424dup	NP_009230.2:n.788-425_788-424dup
NM_007300.4:c.4074_4075dup	NP_009231.2:p.Gln1359ArgfsTer8
NR_027676.2:n.4251_4252dup