Canonical Allele Identifier: CA2499224414

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1071944
• ClinVar RCV Id: RCV001384535
• dbSNP Id: rs2154059426

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076508_43076512dup , CM000679.2:g.43076508_43076512dup	GRCh38
NC_000017.10:g.41228525_41228529dup , CM000679.1:g.41228525_41228529dup	GRCh37
NC_000017.9:g.38482051_38482055dup	NCBI36
NG_005905.2:g.141475_141479dup , LRG_292:g.141475_141479dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4460_4464dup	ENSP00000417241.2:p.Glu1489IlefsTer17
ENST00000470026.6:c.4463_4467dup	ENSP00000419274.2:p.Glu1490IlefsTer17
ENST00000473961.6:c.4337_4341dup	ENSP00000420201.2:p.Glu1448IlefsTer17
ENST00000476777.6:c.4457_4461dup	ENSP00000417554.2:p.Glu1488IlefsTer17
ENST00000477152.6:c.4385_4389dup	ENSP00000419988.2:p.Glu1464IlefsTer17
ENST00000478531.6:c.1151_1155dup	ENSP00000420412.2:p.Glu386IlefsTer17
ENST00000489037.2:c.4385_4389dup	ENSP00000420781.2:p.Glu1464IlefsTer17
ENST00000493919.6:c.1013_1017dup	ENSP00000418819.2:p.Glu340IlefsTer17
ENST00000494123.6:c.4463_4467dup	ENSP00000419103.2:p.Glu1490IlefsTer17
ENST00000497488.2:c.3575_3579dup	ENSP00000418986.2:p.Glu1194IlefsTer17
ENST00000618469.2:c.4463_4467dup	ENSP00000478114.2:p.Glu1490IlefsTer17
ENST00000634433.2:c.4340_4344dup	ENSP00000489431.2:p.Glu1449IlefsTer17
ENST00000644379.2:c.4529_4533dup	ENSP00000496570.2:p.Glu1512IlefsTer17
ENST00000644555.2:c.1013_1017dup	ENSP00000494614.2:p.Glu340IlefsTer17
ENST00000652672.2:c.4322_4326dup	ENSP00000498906.2:p.Glu1443IlefsTer17
ENST00000484087.6:c.1025_1029dup	ENSP00000419481.2:p.Glu344IlefsTer17
ENST00000700182.1:c.1070_1074dup	ENSP00000514849.1:p.Glu359IlefsTer17
ENST00000357654.9:c.4463_4467dup MANE Select	ENSP00000350283.3:p.Glu1490IlefsTer17
ENST00000471181.7:c.4526_4530dup	ENSP00000418960.2:p.Glu1511IlefsTer17
ENST00000644379.1:c.850_854dup
ENST00000352993.7:c.1037_1041dup	ENSP00000312236.5:p.Glu348IlefsTer17
ENST00000357654.7:c.4463_4467dup	ENSP00000350283.3:p.Glu1490IlefsTer17
ENST00000461221.5:c.*4246_*4250dup	ENSP00000418548.1:n.*4246_*4250dup
ENST00000468300.5:c.1151_1155dup	ENSP00000417148.1:p.Glu386IlefsTer17
ENST00000471181.6:c.4526_4530dup	ENSP00000418960.2:p.Glu1511IlefsTer17
ENST00000478531.5:c.1151_1155dup	ENSP00000420412.1:p.Glu386IlefsTer17
ENST00000484087.5:c.776_780dup	ENSP00000419481.1:p.Glu261IlefsTer17
ENST00000487825.5:c.779_783dup	ENSP00000418212.1:p.Glu262IlefsTer?
ENST00000491747.6:c.1151_1155dup	ENSP00000420705.2:p.Glu386IlefsTer17
ENST00000493795.5:c.4322_4326dup	ENSP00000418775.1:p.Glu1443IlefsTer17
ENST00000493919.5:c.1013_1017dup	ENSP00000418819.1:p.Glu340IlefsTer17
ENST00000586385.5:c.5-12558_5-12554dup	ENSP00000465818.1:n.5-12558_5-12554dup
ENST00000591534.5:c.-43-1988_-43-1984dup	ENSP00000467329.1:n.-43-1988_-43-1984dup
ENST00000591849.5:c.-98-26319_-98-26315dup	ENSP00000465347.1:n.-98-26319_-98-26315du...
ENST00000621897.1:n.354_358dup
NM_007294.3:c.4463_4467dup , LRG_292t1:c.4463_4467dup	NP_009225.1:p.Glu1490IlefsTer17
NM_007297.3:c.4322_4326dup	NP_009228.2:p.Glu1443IlefsTer17
NM_007298.3:c.1151_1155dup	NP_009229.2:p.Glu386IlefsTer17
NM_007299.3:c.1151_1155dup	NP_009230.2:p.Glu386IlefsTer17
NM_007300.3:c.4526_4530dup	NP_009231.2:p.Glu1511IlefsTer17
NR_027676.1:n.4599_4603dup
NM_007294.4:c.4463_4467dup MANE Select	NP_009225.1:p.Glu1490IlefsTer17
NM_007297.4:c.4322_4326dup	NP_009228.2:p.Glu1443IlefsTer17
NM_007299.4:c.1151_1155dup	NP_009230.2:p.Glu386IlefsTer17
NM_007300.4:c.4526_4530dup	NP_009231.2:p.Glu1511IlefsTer17
NR_027676.2:n.4640_4644dup