Canonical Allele Identifier: CA915950089

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 662073
• ClinVar RCV Id: RCV000819634
• dbSNP Id: rs1597859750

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091486_43091487insAT , CM000679.2:g.43091486_43091487insAT	GRCh38
NC_000017.10:g.41243503_41243504insAT , CM000679.1:g.41243503_41243504insAT	GRCh37
NC_000017.9:g.38497029_38497030insAT	NCBI36
NG_005905.2:g.126498_126499insTA , LRG_292:g.126498_126499insTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.4109_4110insTA
ENST00000461574.2:c.4045_4046insTA	ENSP00000417241.2:p.Thr1349IlefsTer18
ENST00000470026.6:c.4045_4046insTA	ENSP00000419274.2:p.Thr1349IlefsTer18
ENST00000473961.6:c.3919_3920insTA	ENSP00000420201.2:p.Thr1307IlefsTer18
ENST00000476777.6:c.4042_4043insTA	ENSP00000417554.2:p.Thr1348IlefsTer18
ENST00000477152.6:c.3967_3968insTA	ENSP00000419988.2:p.Thr1323IlefsTer18
ENST00000478531.6:c.785-454_785-453insTA	ENSP00000420412.2:n.785-454_785-453insTA
ENST00000489037.2:c.3967_3968insTA	ENSP00000420781.2:p.Thr1323IlefsTer18
ENST00000493919.6:c.647-454_647-453insTA	ENSP00000418819.2:n.647-454_647-453insTA
ENST00000494123.6:c.4045_4046insTA	ENSP00000419103.2:p.Thr1349IlefsTer18
ENST00000497488.2:c.3157_3158insTA	ENSP00000418986.2:p.Thr1053IlefsTer18
ENST00000618469.2:c.4045_4046insTA	ENSP00000478114.2:p.Thr1349IlefsTer18
ENST00000634433.2:c.3922_3923insTA	ENSP00000489431.2:p.Thr1308IlefsTer18
ENST00000644379.2:c.4045_4046insTA	ENSP00000496570.2:p.Thr1349IlefsTer18
ENST00000644555.2:c.647-454_647-453insTA	ENSP00000494614.2:n.647-454_647-453insTA
ENST00000652672.2:c.3904_3905insTA	ENSP00000498906.2:p.Thr1302IlefsTer18
ENST00000484087.6:c.665-454_665-453insTA	ENSP00000419481.2:n.665-454_665-453insTA
ENST00000700182.1:c.707-454_707-453insTA	ENSP00000514849.1:n.707-454_707-453insTA
ENST00000357654.9:c.4045_4046insTA MANE Select	ENSP00000350283.3:p.Thr1349IlefsTer18
ENST00000471181.7:c.4045_4046insTA	ENSP00000418960.2:p.Thr1349IlefsTer18
ENST00000644379.1:c.366_367insTA
ENST00000352993.7:c.671-454_671-453insTA	ENSP00000312236.5:n.671-454_671-453insTA
ENST00000354071.7:c.4045_4046insTA	ENSP00000326002.7:p.Thr1349IlefsTer18
ENST00000357654.7:c.4045_4046insTA	ENSP00000350283.3:p.Thr1349IlefsTer18
ENST00000461221.5:c.*3828_*3829insTA	ENSP00000418548.1:n.*3828_*3829insTA
ENST00000461574.1:c.339_340insTA
ENST00000468300.5:c.788-454_788-453insTA	ENSP00000417148.1:n.788-454_788-453insTA
ENST00000471181.6:c.4045_4046insTA	ENSP00000418960.2:p.Thr1349IlefsTer18
ENST00000478531.5:c.785-454_785-453insTA	ENSP00000420412.1:n.785-454_785-453insTA
ENST00000484087.5:c.410-454_410-453insTA	ENSP00000419481.1:n.410-454_410-453insTA
ENST00000487825.5:c.413-454_413-453insTA	ENSP00000418212.1:n.413-454_413-453insTA
ENST00000491747.6:c.788-454_788-453insTA	ENSP00000420705.2:n.788-454_788-453insTA
ENST00000493795.5:c.3904_3905insTA	ENSP00000418775.1:p.Thr1302IlefsTer18
ENST00000493919.5:c.647-454_647-453insTA	ENSP00000418819.1:n.647-454_647-453insTA
ENST00000586385.5:c.5-27535_5-27534insTA	ENSP00000465818.1:n.5-27535_5-27534insTA
ENST00000591534.5:c.-43-16965_-43-16964insTA	ENSP00000467329.1:n.-43-16965_-43-16964in...
ENST00000591849.5:c.-99+33785_-99+33786insTA	ENSP00000465347.1:n.-99+33785_-99+33786in...
NM_007294.3:c.4045_4046insTA , LRG_292t1:c.4045_4046insTA	NP_009225.1:p.Thr1349IlefsTer18
NM_007297.3:c.3904_3905insTA	NP_009228.2:p.Thr1302IlefsTer18
NM_007298.3:c.788-454_788-453insTA	NP_009229.2:n.788-454_788-453insTA
NM_007299.3:c.788-454_788-453insTA	NP_009230.2:n.788-454_788-453insTA
NM_007300.3:c.4045_4046insTA	NP_009231.2:p.Thr1349IlefsTer18
NR_027676.1:n.4181_4182insTA
NM_007294.4:c.4045_4046insTA MANE Select	NP_009225.1:p.Thr1349IlefsTer18
NM_007297.4:c.3904_3905insTA	NP_009228.2:p.Thr1302IlefsTer18
NM_007299.4:c.788-454_788-453insTA	NP_009230.2:n.788-454_788-453insTA
NM_007300.4:c.4045_4046insTA	NP_009231.2:p.Thr1349IlefsTer18
NR_027676.2:n.4222_4223insTA