Canonical Allele Identifier: CA1139665610

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 929247
• ClinVar RCV Id: RCV001194435
• dbSNP Id: rs2053492284

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091560_43092541dup , CM000679.2:g.43091560_43092541dup	GRCh38
NC_000017.10:g.41243577_41244558dup , CM000679.1:g.41243577_41244558dup	GRCh37
NC_000017.9:g.38497103_38498084dup	NCBI36
NG_005905.2:g.125443_126424dup , LRG_292:g.125443_126424dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.3054_4035dup
ENST00000461574.2:c.2990_3971dup	ENSP00000417241.2:p.Met1324IlefsTer8
ENST00000470026.6:c.2990_3971dup	ENSP00000419274.2:p.Met1324IlefsTer8
ENST00000473961.6:c.2864_3845dup	ENSP00000420201.2:p.Met1282IlefsTer8
ENST00000476777.6:c.2987_3968dup	ENSP00000417554.2:p.Met1323IlefsTer8
ENST00000477152.6:c.2912_3893dup	ENSP00000419988.2:p.Met1298IlefsTer8
ENST00000478531.6:c.785-1509_785-528dup	ENSP00000420412.2:n.785-1509_785-528dup
ENST00000489037.2:c.2912_3893dup	ENSP00000420781.2:p.Met1298IlefsTer8
ENST00000493919.6:c.647-1509_647-528dup	ENSP00000418819.2:n.647-1509_647-528dup
ENST00000494123.6:c.2990_3971dup	ENSP00000419103.2:p.Met1324IlefsTer8
ENST00000497488.2:c.2102_3083dup	ENSP00000418986.2:p.Met1028IlefsTer8
ENST00000618469.2:c.2990_3971dup	ENSP00000478114.2:p.Met1324IlefsTer8
ENST00000634433.2:c.2867_3848dup	ENSP00000489431.2:p.Met1283IlefsTer8
ENST00000644379.2:c.2990_3971dup	ENSP00000496570.2:p.Met1324IlefsTer8
ENST00000644555.2:c.647-1509_647-528dup	ENSP00000494614.2:n.647-1509_647-528dup
ENST00000652672.2:c.2849_3830dup	ENSP00000498906.2:p.Met1277IlefsTer8
ENST00000484087.6:c.665-1509_665-528dup	ENSP00000419481.2:n.665-1509_665-528dup
ENST00000700182.1:c.707-1509_707-528dup	ENSP00000514849.1:n.707-1509_707-528dup
ENST00000357654.9:c.2990_3971dup MANE Select	ENSP00000350283.3:p.Met1324IlefsTer8
ENST00000471181.7:c.2990_3971dup	ENSP00000418960.2:p.Met1324IlefsTer8
ENST00000352993.7:c.671-1509_671-528dup	ENSP00000312236.5:n.671-1509_671-528dup
ENST00000354071.7:c.2990_3971dup	ENSP00000326002.7:p.Met1324IlefsTer8
ENST00000357654.7:c.2990_3971dup	ENSP00000350283.3:p.Met1324IlefsTer8
ENST00000461221.5:c.*2773_*3754dup	ENSP00000418548.1:n.*2773_*3754dup
ENST00000468300.5:c.788-1509_788-528dup	ENSP00000417148.1:n.788-1509_788-528dup
ENST00000471181.6:c.2990_3971dup	ENSP00000418960.2:p.Met1324IlefsTer8
ENST00000478531.5:c.785-1509_785-528dup	ENSP00000420412.1:n.785-1509_785-528dup
ENST00000484087.5:c.410-1509_410-528dup	ENSP00000419481.1:n.410-1509_410-528dup
ENST00000487825.5:c.413-1509_413-528dup	ENSP00000418212.1:n.413-1509_413-528dup
ENST00000491747.6:c.788-1509_788-528dup	ENSP00000420705.2:n.788-1509_788-528dup
ENST00000493795.5:c.2849_3830dup	ENSP00000418775.1:p.Met1277IlefsTer8
ENST00000493919.5:c.647-1509_647-528dup	ENSP00000418819.1:n.647-1509_647-528dup
ENST00000586385.5:c.5-28590_5-27609dup	ENSP00000465818.1:n.5-28590_5-27609dup
ENST00000591534.5:c.-43-18020_-43-17039dup	ENSP00000467329.1:n.-43-18020_-43-17039du...
ENST00000591849.5:c.-99+32730_-99+33711dup	ENSP00000465347.1:n.-99+32730_-99+33711du...
NM_007294.3:c.2990_3971dup , LRG_292t1:c.2990_3971dup	NP_009225.1:p.Met1324IlefsTer8
NM_007297.3:c.2849_3830dup	NP_009228.2:p.Met1277IlefsTer8
NM_007298.3:c.788-1509_788-528dup	NP_009229.2:n.788-1509_788-528dup
NM_007299.3:c.788-1509_788-528dup	NP_009230.2:n.788-1509_788-528dup
NM_007300.3:c.2990_3971dup	NP_009231.2:p.Met1324IlefsTer8
NR_027676.1:n.3126_4107dup
NM_007294.4:c.2990_3971dup MANE Select	NP_009225.1:p.Met1324IlefsTer8
NM_007297.4:c.2849_3830dup	NP_009228.2:p.Met1277IlefsTer8
NM_007299.4:c.788-1509_788-528dup	NP_009230.2:n.788-1509_788-528dup
NM_007300.4:c.2990_3971dup	NP_009231.2:p.Met1324IlefsTer8
NR_027676.2:n.3167_4148dup