Canonical Allele Identifier: CA2260782297

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091794_43091795delinsGT , CM000679.2:g.43091794_43091795delinsGT	GRCh38
NC_000017.10:g.41243811_41243812delinsGT , CM000679.1:g.41243811_41243812delinsGT	GRCh37
NC_000017.9:g.38497337_38497338delinsGT	NCBI36
NG_005905.2:g.126189_126190delinsAC , LRG_292:g.126189_126190delinsAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.3800_3801delinsAC
ENST00000461574.2:c.3736_3737delinsAC	ENSP00000417241.2:p.Thr1246=
ENST00000470026.6:c.3736_3737delinsAC	ENSP00000419274.2:p.Thr1246=
ENST00000473961.6:c.3610_3611delinsAC	ENSP00000420201.2:p.Thr1204=
ENST00000476777.6:c.3733_3734delinsAC	ENSP00000417554.2:p.Thr1245=
ENST00000477152.6:c.3658_3659delinsAC	ENSP00000419988.2:p.Thr1220=
ENST00000478531.6:c.785-763_785-762delinsAC	ENSP00000420412.2:n.785-763_785-762delins...
ENST00000489037.2:c.3658_3659delinsAC	ENSP00000420781.2:p.Thr1220=
ENST00000493919.6:c.647-763_647-762delinsAC	ENSP00000418819.2:n.647-763_647-762delins...
ENST00000494123.6:c.3736_3737delinsAC	ENSP00000419103.2:p.Thr1246=
ENST00000497488.2:c.2848_2849delinsAC	ENSP00000418986.2:p.Thr950=
ENST00000618469.2:c.3736_3737delinsAC	ENSP00000478114.2:p.Thr1246=
ENST00000634433.2:c.3613_3614delinsAC	ENSP00000489431.2:p.Thr1205=
ENST00000644379.2:c.3736_3737delinsAC	ENSP00000496570.2:p.Thr1246=
ENST00000644555.2:c.647-763_647-762delinsAC	ENSP00000494614.2:n.647-763_647-762delins...
ENST00000652672.2:c.3595_3596delinsAC	ENSP00000498906.2:p.Thr1199=
ENST00000484087.6:c.665-763_665-762delinsAC	ENSP00000419481.2:n.665-763_665-762delins...
ENST00000700182.1:c.707-763_707-762delinsAC	ENSP00000514849.1:n.707-763_707-762delins...
ENST00000357654.9:c.3736_3737delinsAC MANE Select	ENSP00000350283.3:p.Thr1246=
ENST00000471181.7:c.3736_3737delinsAC	ENSP00000418960.2:p.Thr1246=
ENST00000644379.1:c.57_58delinsAC
ENST00000352993.7:c.671-763_671-762delinsAC	ENSP00000312236.5:n.671-763_671-762delins...
ENST00000354071.7:c.3736_3737delinsAC	ENSP00000326002.7:p.Thr1246=
ENST00000357654.7:c.3736_3737delinsAC	ENSP00000350283.3:p.Thr1246=
ENST00000461221.5:c.*3519_*3520delinsAC	ENSP00000418548.1:n.*3519_*3520delinsAC
ENST00000461574.1:c.30_31delinsAC
ENST00000468300.5:c.788-763_788-762delinsAC	ENSP00000417148.1:n.788-763_788-762delins...
ENST00000471181.6:c.3736_3737delinsAC	ENSP00000418960.2:p.Thr1246=
ENST00000478531.5:c.785-763_785-762delinsAC	ENSP00000420412.1:n.785-763_785-762delins...
ENST00000484087.5:c.410-763_410-762delinsAC	ENSP00000419481.1:n.410-763_410-762delins...
ENST00000487825.5:c.413-763_413-762delinsAC	ENSP00000418212.1:n.413-763_413-762delins...
ENST00000491747.6:c.788-763_788-762delinsAC	ENSP00000420705.2:n.788-763_788-762delins...
ENST00000493795.5:c.3595_3596delinsAC	ENSP00000418775.1:p.Thr1199=
ENST00000493919.5:c.647-763_647-762delinsAC	ENSP00000418819.1:n.647-763_647-762delins...
ENST00000586385.5:c.5-27844_5-27843delinsAC	ENSP00000465818.1:n.5-27844_5-27843delins...
ENST00000591534.5:c.-43-17274_-43-17273delinsAC	ENSP00000467329.1:n.-43-17274_-43-17273de...
ENST00000591849.5:c.-99+33476_-99+33477delinsAC	ENSP00000465347.1:n.-99+33476_-99+33477de...
NM_007294.3:c.3736_3737delinsAC , LRG_292t1:c.3736_3737delinsAC	NP_009225.1:p.Thr1246=
NM_007297.3:c.3595_3596delinsAC	NP_009228.2:p.Thr1199=
NM_007298.3:c.788-763_788-762delinsAC	NP_009229.2:n.788-763_788-762delinsAC
NM_007299.3:c.788-763_788-762delinsAC	NP_009230.2:n.788-763_788-762delinsAC
NM_007300.3:c.3736_3737delinsAC	NP_009231.2:p.Thr1246=
NR_027676.1:n.3872_3873delinsAC
NM_007294.4:c.3736_3737delinsAC MANE Select	NP_009225.1:p.Thr1246=
NM_007297.4:c.3595_3596delinsAC	NP_009228.2:p.Thr1199=
NM_007299.4:c.788-763_788-762delinsAC	NP_009230.2:n.788-763_788-762delinsAC
NM_007300.4:c.3736_3737delinsAC	NP_009231.2:p.Thr1246=
NR_027676.2:n.3913_3914delinsAC