Canonical Allele Identifier: CA2733692815

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2824938
• ClinVar RCV Id: RCV003645694
• dbSNP Id: rs2052734372

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076567del , CM000679.2:g.43076567del	GRCh38
NC_000017.10:g.41228584del , CM000679.1:g.41228584del	GRCh37
NC_000017.9:g.38482110del	NCBI36
NG_005905.2:g.141418del , LRG_292:g.141418del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4403del	ENSP00000417241.2:p.Pro1468GlnfsTer?
ENST00000470026.6:c.4406del	ENSP00000419274.2:p.Pro1469GlnfsTer?
ENST00000473961.6:c.4280del	ENSP00000420201.2:p.Pro1427GlnfsTer?
ENST00000476777.6:c.4400del	ENSP00000417554.2:p.Pro1467GlnfsTer?
ENST00000477152.6:c.4328del	ENSP00000419988.2:p.Pro1443GlnfsTer?
ENST00000478531.6:c.1094del	ENSP00000420412.2:p.Pro365GlnfsTer?
ENST00000489037.2:c.4328del	ENSP00000420781.2:p.Pro1443GlnfsTer?
ENST00000493919.6:c.956del	ENSP00000418819.2:p.Pro319GlnfsTer?
ENST00000494123.6:c.4406del	ENSP00000419103.2:p.Pro1469GlnfsTer?
ENST00000497488.2:c.3518del	ENSP00000418986.2:p.Pro1173GlnfsTer?
ENST00000618469.2:c.4406del	ENSP00000478114.2:p.Pro1469GlnfsTer?
ENST00000634433.2:c.4283del	ENSP00000489431.2:p.Pro1428GlnfsTer?
ENST00000644379.2:c.4472del	ENSP00000496570.2:p.Pro1491GlnfsTer?
ENST00000644555.2:c.956del	ENSP00000494614.2:p.Pro319GlnfsTer?
ENST00000652672.2:c.4265del	ENSP00000498906.2:p.Pro1422GlnfsTer?
ENST00000484087.6:c.968del	ENSP00000419481.2:p.Pro323GlnfsTer?
ENST00000700182.1:c.1013del	ENSP00000514849.1:p.Pro338GlnfsTer?
ENST00000357654.9:c.4406del MANE Select	ENSP00000350283.3:p.Pro1469GlnfsTer?
ENST00000471181.7:c.4469del	ENSP00000418960.2:p.Pro1490GlnfsTer?
ENST00000644379.1:c.793del
ENST00000352993.7:c.980del	ENSP00000312236.5:p.Pro327GlnfsTer?
ENST00000357654.7:c.4406del	ENSP00000350283.3:p.Pro1469GlnfsTer?
ENST00000461221.5:c.*4189del	ENSP00000418548.1:n.*4189del
ENST00000461574.1:c.697del
ENST00000468300.5:c.1094del	ENSP00000417148.1:p.Pro365GlnfsTer?
ENST00000471181.6:c.4469del	ENSP00000418960.2:p.Pro1490GlnfsTer?
ENST00000478531.5:c.1094del	ENSP00000420412.1:p.Pro365GlnfsTer?
ENST00000484087.5:c.719del	ENSP00000419481.1:p.Pro240GlnfsTer?
ENST00000487825.5:c.722del	ENSP00000418212.1:p.Pro241GlnfsTer?
ENST00000491747.6:c.1094del	ENSP00000420705.2:p.Pro365GlnfsTer?
ENST00000493795.5:c.4265del	ENSP00000418775.1:p.Pro1422GlnfsTer?
ENST00000493919.5:c.956del	ENSP00000418819.1:p.Pro319GlnfsTer?
ENST00000586385.5:c.5-12615del	ENSP00000465818.1:n.5-12615del
ENST00000591534.5:c.-43-2045del	ENSP00000467329.1:n.-43-2045del
ENST00000591849.5:c.-98-26376del	ENSP00000465347.1:n.-98-26376del
ENST00000621897.1:n.297del
NM_007294.3:c.4406del , LRG_292t1:c.4406del	NP_009225.1:p.Pro1469GlnfsTer?
NM_007297.3:c.4265del	NP_009228.2:p.Pro1422GlnfsTer?
NM_007298.3:c.1094del	NP_009229.2:p.Pro365GlnfsTer?
NM_007299.3:c.1094del	NP_009230.2:p.Pro365GlnfsTer?
NM_007300.3:c.4469del	NP_009231.2:p.Pro1490GlnfsTer?
NR_027676.1:n.4542del
NM_007294.4:c.4406del MANE Select	NP_009225.1:p.Pro1469GlnfsTer?
NM_007297.4:c.4265del	NP_009228.2:p.Pro1422GlnfsTer?
NM_007299.4:c.1094del	NP_009230.2:p.Pro365GlnfsTer?
NM_007300.4:c.4469del	NP_009231.2:p.Pro1490GlnfsTer?
NR_027676.2:n.4583del