Canonical Allele Identifier: CA002323

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 37534
• ClinVar RCV Id: RCV000031115 ; RCV000048263 ; RCV000130022 ; RCV000301326 ; RCV000677818 ; RCV001358494
• dbSNP Id: rs80357729
• ExAC: 17:41243920 C / CT
• gnomAD v2: 17-41243920-C-CT
• gnomAD v4: 17-43091903-C-CT
• MyVariant Identifiers: chr17:g.41243921dupT (hg19) ; chr17:g.41243920_41243921insT (hg19) ; chr17:g.43091904dupT (hg38) ; chr17:g.43091903_43091904insT (hg38)
• PubMed: PMID:16084575 ; PMID:16455195 ; PMID:16949048 ; PMID:17100994 ; PMID:20033483 ; PMID:20950396 ; PMID:22160602 ; PMID:22217648 ; PMID:22382806 ; PMID:22762150 ; PMID:22798144 ; PMID:23633455 ; PMID:23961350 ; PMID:24728189 ; PMID:24916970 ; PMID:25863477 ; PMID:26402875 ; PMID:27167707

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091904dup , CM000679.2:g.43091904dup	GRCh38
NC_000017.10:g.41243921dup , CM000679.1:g.41243921dup	GRCh37
NC_000017.9:g.38497447dup	NCBI36
NG_005905.2:g.126080dup , LRG_292:g.126080dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3691dup
ENST00000461574.2:c.3627dup	ENSP00000417241.2:p.Glu1210ArgfsTer9
ENST00000470026.6:c.3627dup	ENSP00000419274.2:p.Glu1210ArgfsTer9
ENST00000473961.6:c.3501dup	ENSP00000420201.2:p.Glu1168ArgfsTer9
ENST00000476777.6:c.3624dup	ENSP00000417554.2:p.Glu1209ArgfsTer9
ENST00000477152.6:c.3549dup	ENSP00000419988.2:p.Glu1184ArgfsTer9
ENST00000478531.6:c.785-872dup	ENSP00000420412.2:n.785-872dup
ENST00000489037.2:c.3549dup	ENSP00000420781.2:p.Glu1184ArgfsTer9
ENST00000493919.6:c.647-872dup	ENSP00000418819.2:n.647-872dup
ENST00000494123.6:c.3627dup	ENSP00000419103.2:p.Glu1210ArgfsTer9
ENST00000497488.2:c.2739dup	ENSP00000418986.2:p.Glu914ArgfsTer9
ENST00000618469.2:c.3627dup	ENSP00000478114.2:p.Glu1210ArgfsTer9
ENST00000634433.2:c.3504dup	ENSP00000489431.2:p.Glu1169ArgfsTer9
ENST00000644379.2:c.3627dup	ENSP00000496570.2:p.Glu1210ArgfsTer9
ENST00000644555.2:c.647-872dup	ENSP00000494614.2:n.647-872dup
ENST00000652672.2:c.3486dup	ENSP00000498906.2:p.Glu1163ArgfsTer9
ENST00000484087.6:c.665-872dup	ENSP00000419481.2:n.665-872dup
ENST00000700182.1:c.707-872dup	ENSP00000514849.1:n.707-872dup
ENST00000357654.9:c.3627dup MANE Select	ENSP00000350283.3:p.Glu1210ArgfsTer9
ENST00000471181.7:c.3627dup	ENSP00000418960.2:p.Glu1210ArgfsTer9
ENST00000352993.7:c.671-872dup	ENSP00000312236.5:n.671-872dup
ENST00000354071.7:c.3627dup	ENSP00000326002.7:p.Glu1210ArgfsTer9
ENST00000357654.7:c.3627dup	ENSP00000350283.3:p.Glu1210ArgfsTer9
ENST00000461221.5:c.*3410dup	ENSP00000418548.1:n.*3410dup
ENST00000468300.5:c.788-872dup	ENSP00000417148.1:n.788-872dup
ENST00000471181.6:c.3627dup	ENSP00000418960.2:p.Glu1210ArgfsTer9
ENST00000478531.5:c.785-872dup	ENSP00000420412.1:n.785-872dup
ENST00000484087.5:c.410-872dup	ENSP00000419481.1:n.410-872dup
ENST00000487825.5:c.413-872dup	ENSP00000418212.1:n.413-872dup
ENST00000491747.6:c.788-872dup	ENSP00000420705.2:n.788-872dup
ENST00000493795.5:c.3486dup	ENSP00000418775.1:p.Glu1163ArgfsTer9
ENST00000493919.5:c.647-872dup	ENSP00000418819.1:n.647-872dup
ENST00000586385.5:c.5-27953dup	ENSP00000465818.1:n.5-27953dup
ENST00000591534.5:c.-43-17383dup	ENSP00000467329.1:n.-43-17383dup
ENST00000591849.5:c.-99+33367dup	ENSP00000465347.1:n.-99+33367dup
NM_007294.3:c.3627dup , LRG_292t1:c.3627dup	NP_009225.1:p.Glu1210ArgfsTer9
NM_007297.3:c.3486dup	NP_009228.2:p.Glu1163ArgfsTer9
NM_007298.3:c.788-872dup	NP_009229.2:n.788-872dup
NM_007299.3:c.788-872dup	NP_009230.2:n.788-872dup
NM_007300.3:c.3627dup	NP_009231.2:p.Glu1210ArgfsTer9
NR_027676.1:n.3763dup
NM_007294.4:c.3627dup MANE Select	NP_009225.1:p.Glu1210ArgfsTer9
NM_007297.4:c.3486dup	NP_009228.2:p.Glu1163ArgfsTer9
NM_007299.4:c.788-872dup	NP_009230.2:n.788-872dup
NM_007300.4:c.3627dup	NP_009231.2:p.Glu1210ArgfsTer9
NR_027676.2:n.3804dup