Canonical Allele Identifier: CA913190346

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 617480
• ClinVar RCV Id: RCV002275143
• dbSNP Id: rs1567782959
• gnomAD v4: 17-43082404-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082409del , CM000679.2:g.43082409del	GRCh38
NC_000017.10:g.41234426del , CM000679.1:g.41234426del	GRCh37
NC_000017.9:g.38487952del	NCBI36
NG_005905.2:g.135579del , LRG_292:g.135579del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4356del	ENSP00000417241.2:p.Val1453TyrfsTer2
ENST00000470026.6:c.4356del	ENSP00000419274.2:p.Ala1453GlnfsTer3
ENST00000473961.6:c.4230del	ENSP00000420201.2:p.Ala1411GlnfsTer3
ENST00000476777.6:c.4350del	ENSP00000417554.2:p.Ala1451GlnfsTer3
ENST00000477152.6:c.4278del	ENSP00000419988.2:p.Ala1427GlnfsTer3
ENST00000478531.6:c.1044del	ENSP00000420412.2:p.Ala349GlnfsTer3
ENST00000489037.2:c.4278del	ENSP00000420781.2:p.Ala1427GlnfsTer3
ENST00000493919.6:c.906del	ENSP00000418819.2:p.Ala303GlnfsTer3
ENST00000494123.6:c.4356del	ENSP00000419103.2:p.Ala1453GlnfsTer3
ENST00000497488.2:c.3468del	ENSP00000418986.2:p.Ala1157GlnfsTer3
ENST00000618469.2:c.4356del	ENSP00000478114.2:p.Ala1453GlnfsTer3
ENST00000634433.2:c.4233del	ENSP00000489431.2:p.Ala1412GlnfsTer3
ENST00000644379.2:c.4356del	ENSP00000496570.2:p.Asp1453IlefsTer25
ENST00000644555.2:c.906del	ENSP00000494614.2:p.Ala303GlnfsTer3
ENST00000652672.2:c.4215del	ENSP00000498906.2:p.Ala1406GlnfsTer3
ENST00000484087.6:c.921del	ENSP00000419481.2:p.Val308TyrfsTer2
ENST00000700182.1:c.966del	ENSP00000514849.1:p.Val323TyrfsTer2
ENST00000357654.9:c.4356del MANE Select	ENSP00000350283.3:p.Ala1453GlnfsTer3
ENST00000471181.7:c.4356del	ENSP00000418960.2:p.Asp1453IlefsTer24
ENST00000644379.1:c.677del
ENST00000352993.7:c.930del	ENSP00000312236.5:p.Ala311GlnfsTer3
ENST00000357654.7:c.4356del	ENSP00000350283.3:p.Ala1453GlnfsTer3
ENST00000461221.5:c.*4139del	ENSP00000418548.1:n.*4139del
ENST00000461574.1:c.650del
ENST00000468300.5:c.1047del	ENSP00000417148.1:p.Val350TyrfsTer2
ENST00000471181.6:c.4356del	ENSP00000418960.2:p.Asp1453IlefsTer24
ENST00000478531.5:c.1044del	ENSP00000420412.1:p.Ala349GlnfsTer3
ENST00000484087.5:c.669del	ENSP00000419481.1:p.Ala224GlnfsTer3
ENST00000487825.5:c.672del	ENSP00000418212.1:p.Ala225GlnfsTer3
ENST00000491747.6:c.1047del	ENSP00000420705.2:p.Val350TyrfsTer2
ENST00000493795.5:c.4215del	ENSP00000418775.1:p.Ala1406GlnfsTer3
ENST00000493919.5:c.906del	ENSP00000418819.1:p.Ala303GlnfsTer3
ENST00000586385.5:c.5-18454del	ENSP00000465818.1:n.5-18454del
ENST00000591534.5:c.-43-7884del	ENSP00000467329.1:n.-43-7884del
ENST00000591849.5:c.-98-32215del	ENSP00000465347.1:n.-98-32215del
ENST00000621897.1:n.250del
NM_007294.3:c.4356del , LRG_292t1:c.4356del	NP_009225.1:p.Ala1453GlnfsTer3
NM_007297.3:c.4215del	NP_009228.2:p.Ala1406GlnfsTer3
NM_007298.3:c.1047del	NP_009229.2:p.Val350TyrfsTer2
NM_007299.3:c.1047del	NP_009230.2:p.Val350TyrfsTer2
NM_007300.3:c.4356del	NP_009231.2:p.Asp1453IlefsTer24
NR_027676.1:n.4492del
NM_007294.4:c.4356del MANE Select	NP_009225.1:p.Ala1453GlnfsTer3
NM_007297.4:c.4215del	NP_009228.2:p.Ala1406GlnfsTer3
NM_007299.4:c.1047del	NP_009230.2:p.Val350TyrfsTer2
NM_007300.4:c.4356del	NP_009231.2:p.Asp1453IlefsTer24
NR_027676.2:n.4533del