Canonical Allele Identifier: CA1139665604

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 927378
• ClinVar RCV Id: RCV001190605 ; RCV002560087
• dbSNP Id: rs2053467384

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091425_43091540delinsAT , CM000679.2:g.43091425_43091540delinsAT	GRCh38
NC_000017.10:g.41243442_41243557delinsAT , CM000679.1:g.41243442_41243557delinsAT	GRCh37
NC_000017.9:g.38496968_38497083delinsAT	NCBI36
NG_005905.2:g.126444_126559delinsAT , LRG_292:g.126444_126559delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.4055_4170delinsAT
ENST00000461574.2:c.3991_4096+10delinsAT
ENST00000470026.6:c.3991_4096+10delinsAT
ENST00000473961.6:c.3865_3970+10delinsAT
ENST00000476777.6:c.3988_4093+10delinsAT
ENST00000477152.6:c.3913_4018+10delinsAT
ENST00000478531.6:c.785-508_785-393delinsAT	ENSP00000420412.2:n.785-508_785-393delinsAT
ENST00000489037.2:c.3913_4018+10delinsAT
ENST00000493919.6:c.647-508_647-393delinsAT	ENSP00000418819.2:n.647-508_647-393delinsAT
ENST00000494123.6:c.3991_4096+10delinsAT
ENST00000497488.2:c.3103_3208+10delinsAT
ENST00000618469.2:c.3991_4096+10delinsAT
ENST00000634433.2:c.3868_3973+10delinsAT
ENST00000644379.2:c.3991_4096+10delinsAT
ENST00000644555.2:c.647-508_647-393delinsAT	ENSP00000494614.2:n.647-508_647-393delinsAT
ENST00000652672.2:c.3850_3955+10delinsAT
ENST00000484087.6:c.665-508_665-393delinsAT	ENSP00000419481.2:n.665-508_665-393delinsAT
ENST00000700182.1:c.707-508_707-393delinsAT	ENSP00000514849.1:n.707-508_707-393delinsAT
ENST00000357654.9:c.3991_4096+10delinsAT
ENST00000471181.7:c.3991_4096+10delinsAT
ENST00000644379.1:c.312_417+10delinsAT
ENST00000352993.7:c.671-508_671-393delinsAT	ENSP00000312236.5:n.671-508_671-393delinsAT
ENST00000354071.7:c.3991_4106delinsAT	ENSP00000326002.7:p.Gln1331_Thr1369delinsIle
ENST00000357654.7:c.3991_4096+10delinsAT
ENST00000461221.5:c.*3774_*3879+10delinsAT
ENST00000461574.1:c.285_390+10delinsAT
ENST00000468300.5:c.788-508_788-393delinsAT	ENSP00000417148.1:n.788-508_788-393delinsAT
ENST00000471181.6:c.3991_4096+10delinsAT
ENST00000478531.5:c.785-508_785-393delinsAT	ENSP00000420412.1:n.785-508_785-393delinsAT
ENST00000484087.5:c.410-508_410-393delinsAT	ENSP00000419481.1:n.410-508_410-393delinsAT
ENST00000487825.5:c.413-508_413-393delinsAT	ENSP00000418212.1:n.413-508_413-393delinsAT
ENST00000491747.6:c.788-508_788-393delinsAT	ENSP00000420705.2:n.788-508_788-393delinsAT
ENST00000493795.5:c.3850_3955+10delinsAT
ENST00000493919.5:c.647-508_647-393delinsAT	ENSP00000418819.1:n.647-508_647-393delinsAT
ENST00000586385.5:c.5-27589_5-27474delinsAT	ENSP00000465818.1:n.5-27589_5-27474delinsAT
ENST00000591534.5:c.-43-17019_-43-16904delinsAT	ENSP00000467329.1:n.-43-17019_-43-16904delinsAT
ENST00000591849.5:c.-99+33731_-99+33846delinsAT	ENSP00000465347.1:n.-99+33731_-99+33846delinsAT
NM_007294.3:c.3991_4096+10delinsAT , LRG_292t1:c.3991_4096+10delinsAT
NM_007297.3:c.3850_3955+10delinsAT
NM_007298.3:c.788-508_788-393delinsAT	NP_009229.2:n.788-508_788-393delinsAT
NM_007299.3:c.788-508_788-393delinsAT	NP_009230.2:n.788-508_788-393delinsAT
NM_007300.3:c.3991_4096+10delinsAT
NR_027676.1:n.4127_4232+10delinsAT
NM_007294.4:c.3991_4096+10delinsAT
NM_007297.4:c.3850_3955+10delinsAT
NM_007299.4:c.788-508_788-393delinsAT	NP_009230.2:n.788-508_788-393delinsAT
NM_007300.4:c.3991_4096+10delinsAT
NR_027676.2:n.4168_4273+10delinsAT