Canonical Allele Identifier: CA1139665594

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 993204
• ClinVar RCV Id: RCV001284546 ; RCV001385001
• dbSNP Id: rs2053050323

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082466_43082490del , CM000679.2:g.43082466_43082490del	GRCh38
NC_000017.10:g.41234483_41234507del , CM000679.1:g.41234483_41234507del	GRCh37
NC_000017.9:g.38488009_38488033del	NCBI36
NG_005905.2:g.135494_135518del , LRG_292:g.135494_135518del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4271_4295del	ENSP00000417241.2:p.Gln1424ProfsTer2
ENST00000470026.6:c.4271_4295del	ENSP00000419274.2:p.Gln1424ProfsTer2
ENST00000473961.6:c.4145_4169del	ENSP00000420201.2:p.Gln1382ProfsTer2
ENST00000476777.6:c.4265_4289del	ENSP00000417554.2:p.Gln1422ProfsTer2
ENST00000477152.6:c.4193_4217del	ENSP00000419988.2:p.Gln1398ProfsTer2
ENST00000478531.6:c.959_983del	ENSP00000420412.2:p.Gln320ProfsTer2
ENST00000489037.2:c.4193_4217del	ENSP00000420781.2:p.Gln1398ProfsTer2
ENST00000493919.6:c.821_845del	ENSP00000418819.2:p.Gln274ProfsTer2
ENST00000494123.6:c.4271_4295del	ENSP00000419103.2:p.Gln1424ProfsTer2
ENST00000497488.2:c.3383_3407del	ENSP00000418986.2:p.Gln1128ProfsTer2
ENST00000618469.2:c.4271_4295del	ENSP00000478114.2:p.Gln1424ProfsTer2
ENST00000634433.2:c.4148_4172del	ENSP00000489431.2:p.Gln1383ProfsTer2
ENST00000644379.2:c.4271_4295del	ENSP00000496570.2:p.Gln1424ProfsTer2
ENST00000644555.2:c.821_845del	ENSP00000494614.2:p.Gln274ProfsTer2
ENST00000652672.2:c.4130_4154del	ENSP00000498906.2:p.Gln1377ProfsTer2
ENST00000484087.6:c.836_860del	ENSP00000419481.2:p.Gln279ProfsTer2
ENST00000700182.1:c.881_905del	ENSP00000514849.1:p.Gln294ProfsTer2
ENST00000357654.9:c.4271_4295del MANE Select	ENSP00000350283.3:p.Gln1424ProfsTer2
ENST00000471181.7:c.4271_4295del	ENSP00000418960.2:p.Gln1424ProfsTer2
ENST00000644379.1:c.592_616del
ENST00000352993.7:c.845_869del	ENSP00000312236.5:p.Gln282ProfsTer2
ENST00000357654.7:c.4271_4295del	ENSP00000350283.3:p.Gln1424ProfsTer2
ENST00000461221.5:c.*4054_*4078del	ENSP00000418548.1:n.*4054_*4078del
ENST00000461574.1:c.565_589del
ENST00000468300.5:c.962_986del	ENSP00000417148.1:p.Gln321ProfsTer2
ENST00000471181.6:c.4271_4295del	ENSP00000418960.2:p.Gln1424ProfsTer2
ENST00000478531.5:c.959_983del	ENSP00000420412.1:p.Gln320ProfsTer2
ENST00000484087.5:c.584_608del	ENSP00000419481.1:p.Gln195ProfsTer2
ENST00000487825.5:c.587_611del	ENSP00000418212.1:p.Gln196ProfsTer2
ENST00000491747.6:c.962_986del	ENSP00000420705.2:p.Gln321ProfsTer2
ENST00000493795.5:c.4130_4154del	ENSP00000418775.1:p.Gln1377ProfsTer2
ENST00000493919.5:c.821_845del	ENSP00000418819.1:p.Gln274ProfsTer2
ENST00000586385.5:c.5-18539_5-18515del	ENSP00000465818.1:n.5-18539_5-18515del
ENST00000591534.5:c.-43-7969_-43-7945del	ENSP00000467329.1:n.-43-7969_-43-7945del
ENST00000591849.5:c.-98-32300_-98-32276del	ENSP00000465347.1:n.-98-32300_-98-32276de...
ENST00000621897.1:n.165_189del
NM_007294.3:c.4271_4295del , LRG_292t1:c.4271_4295del	NP_009225.1:p.Gln1424ProfsTer2
NM_007297.3:c.4130_4154del	NP_009228.2:p.Gln1377ProfsTer2
NM_007298.3:c.962_986del	NP_009229.2:p.Gln321ProfsTer2
NM_007299.3:c.962_986del	NP_009230.2:p.Gln321ProfsTer2
NM_007300.3:c.4271_4295del	NP_009231.2:p.Gln1424ProfsTer2
NR_027676.1:n.4407_4431del
NM_007294.4:c.4271_4295del MANE Select	NP_009225.1:p.Gln1424ProfsTer2
NM_007297.4:c.4130_4154del	NP_009228.2:p.Gln1377ProfsTer2
NM_007299.4:c.962_986del	NP_009230.2:p.Gln321ProfsTer2
NM_007300.4:c.4271_4295del	NP_009231.2:p.Gln1424ProfsTer2
NR_027676.2:n.4448_4472del