Canonical Allele Identifier: CA2260783207

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092632_43092633delinsTA , CM000679.2:g.43092632_43092633delinsTA	GRCh38
NC_000017.10:g.41244649_41244650delinsTA , CM000679.1:g.41244649_41244650delinsTA	GRCh37
NC_000017.9:g.38498175_38498176delinsTA	NCBI36
NG_005905.2:g.125351_125352delinsTA , LRG_292:g.125351_125352delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2962_2963delinsTA
ENST00000461574.2:c.2898_2899delinsTA	ENSP00000417241.2:p.Ile966=
ENST00000470026.6:c.2898_2899delinsTA	ENSP00000419274.2:p.Ile966=
ENST00000473961.6:c.2772_2773delinsTA	ENSP00000420201.2:p.Ile924=
ENST00000476777.6:c.2895_2896delinsTA	ENSP00000417554.2:p.Ile965=
ENST00000477152.6:c.2820_2821delinsTA	ENSP00000419988.2:p.Ile940=
ENST00000478531.6:c.785-1601_785-1600delinsTA	ENSP00000420412.2:n.785-1601_785-1600delinsTA
ENST00000489037.2:c.2820_2821delinsTA	ENSP00000420781.2:p.Ile940=
ENST00000493919.6:c.647-1601_647-1600delinsTA	ENSP00000418819.2:n.647-1601_647-1600delinsTA
ENST00000494123.6:c.2898_2899delinsTA	ENSP00000419103.2:p.Ile966=
ENST00000497488.2:c.2010_2011delinsTA	ENSP00000418986.2:p.Ile670=
ENST00000618469.2:c.2898_2899delinsTA	ENSP00000478114.2:p.Ile966=
ENST00000634433.2:c.2775_2776delinsTA	ENSP00000489431.2:p.Ile925=
ENST00000644379.2:c.2898_2899delinsTA	ENSP00000496570.2:p.Ile966=
ENST00000644555.2:c.647-1601_647-1600delinsTA	ENSP00000494614.2:n.647-1601_647-1600delinsTA
ENST00000652672.2:c.2757_2758delinsTA	ENSP00000498906.2:p.Ile919=
ENST00000484087.6:c.665-1601_665-1600delinsTA	ENSP00000419481.2:n.665-1601_665-1600delinsTA
ENST00000700182.1:c.707-1601_707-1600delinsTA	ENSP00000514849.1:n.707-1601_707-1600delinsTA
ENST00000357654.9:c.2898_2899delinsTA MANE Select	ENSP00000350283.3:p.Ile966=
ENST00000471181.7:c.2898_2899delinsTA	ENSP00000418960.2:p.Ile966=
ENST00000352993.7:c.671-1601_671-1600delinsTA	ENSP00000312236.5:n.671-1601_671-1600delinsTA
ENST00000354071.7:c.2898_2899delinsTA	ENSP00000326002.7:p.Ile966=
ENST00000357654.7:c.2898_2899delinsTA	ENSP00000350283.3:p.Ile966=
ENST00000461221.5:c.*2681_*2682delinsTA	ENSP00000418548.1:n.*2681_*2682delinsTA
ENST00000468300.5:c.788-1601_788-1600delinsTA	ENSP00000417148.1:n.788-1601_788-1600delinsTA
ENST00000471181.6:c.2898_2899delinsTA	ENSP00000418960.2:p.Ile966=
ENST00000478531.5:c.785-1601_785-1600delinsTA	ENSP00000420412.1:n.785-1601_785-1600delinsTA
ENST00000484087.5:c.410-1601_410-1600delinsTA	ENSP00000419481.1:n.410-1601_410-1600delinsTA
ENST00000487825.5:c.413-1601_413-1600delinsTA	ENSP00000418212.1:n.413-1601_413-1600delinsTA
ENST00000491747.6:c.788-1601_788-1600delinsTA	ENSP00000420705.2:n.788-1601_788-1600delinsTA
ENST00000493795.5:c.2757_2758delinsTA	ENSP00000418775.1:p.Ile919=
ENST00000493919.5:c.647-1601_647-1600delinsTA	ENSP00000418819.1:n.647-1601_647-1600delinsTA
ENST00000586385.5:c.5-28682_5-28681delinsTA	ENSP00000465818.1:n.5-28682_5-28681delinsTA
ENST00000591534.5:c.-43-18112_-43-18111delinsTA	ENSP00000467329.1:n.-43-18112_-43-18111delinsTA
ENST00000591849.5:c.-99+32638_-99+32639delinsTA	ENSP00000465347.1:n.-99+32638_-99+32639delinsTA
NM_007294.3:c.2898_2899delinsTA , LRG_292t1:c.2898_2899delinsTA	NP_009225.1:p.Ile966=
NM_007297.3:c.2757_2758delinsTA	NP_009228.2:p.Ile919=
NM_007298.3:c.788-1601_788-1600delinsTA	NP_009229.2:n.788-1601_788-1600delinsTA
NM_007299.3:c.788-1601_788-1600delinsTA	NP_009230.2:n.788-1601_788-1600delinsTA
NM_007300.3:c.2898_2899delinsTA	NP_009231.2:p.Ile966=
NR_027676.1:n.3034_3035delinsTA
NM_007294.4:c.2898_2899delinsTA MANE Select	NP_009225.1:p.Ile966=
NM_007297.4:c.2757_2758delinsTA	NP_009228.2:p.Ile919=
NM_007299.4:c.788-1601_788-1600delinsTA	NP_009230.2:n.788-1601_788-1600delinsTA
NM_007300.4:c.2898_2899delinsTA	NP_009231.2:p.Ile966=
NR_027676.2:n.3075_3076delinsTA