Canonical Allele Identifier: CA002211

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 54876
• ClinVar RCV Id: RCV001355449
• dbSNP Id: rs80358337
• ExAC: 17:41244127 GACT / G
• gnomAD v2: 17-41244127-GACT-G
• gnomAD v3: 17-43092110-GACT-G
• gnomAD v4: 17-43092110-GACT-G
• MyVariant Identifiers: chr17:g.41244128_41244130del (hg19) ; chr17:g.43092111_43092113del (hg38)
• PubMed: PMID:10923033 ; PMID:16267036 ; PMID:19941162

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092114_43092116del , CM000679.2:g.43092114_43092116del	GRCh38
NC_000017.10:g.41244131_41244133del , CM000679.1:g.41244131_41244133del	GRCh37
NC_000017.9:g.38497657_38497659del	NCBI36
NG_005905.2:g.125871_125873del , LRG_292:g.125871_125873del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.3482_3484del
ENST00000461574.2:c.3418_3420del	ENSP00000417241.2:p.Ser1140del
ENST00000470026.6:c.3418_3420del	ENSP00000419274.2:p.Ser1140del
ENST00000473961.6:c.3292_3294del	ENSP00000420201.2:p.Ser1098del
ENST00000476777.6:c.3415_3417del	ENSP00000417554.2:p.Ser1139del
ENST00000477152.6:c.3340_3342del	ENSP00000419988.2:p.Ser1114del
ENST00000478531.6:c.785-1081_785-1079del	ENSP00000420412.2:n.785-1081_785-1079del
ENST00000489037.2:c.3340_3342del	ENSP00000420781.2:p.Ser1114del
ENST00000493919.6:c.647-1081_647-1079del	ENSP00000418819.2:n.647-1081_647-1079del
ENST00000494123.6:c.3418_3420del	ENSP00000419103.2:p.Ser1140del
ENST00000497488.2:c.2530_2532del	ENSP00000418986.2:p.Ser844del
ENST00000618469.2:c.3418_3420del	ENSP00000478114.2:p.Ser1140del
ENST00000634433.2:c.3295_3297del	ENSP00000489431.2:p.Ser1099del
ENST00000644379.2:c.3418_3420del	ENSP00000496570.2:p.Ser1140del
ENST00000644555.2:c.647-1081_647-1079del	ENSP00000494614.2:n.647-1081_647-1079del
ENST00000652672.2:c.3277_3279del	ENSP00000498906.2:p.Ser1093del
ENST00000484087.6:c.665-1081_665-1079del	ENSP00000419481.2:n.665-1081_665-1079del
ENST00000700182.1:c.707-1081_707-1079del	ENSP00000514849.1:n.707-1081_707-1079del
ENST00000357654.9:c.3418_3420del MANE Select	ENSP00000350283.3:p.Ser1140del
ENST00000471181.7:c.3418_3420del	ENSP00000418960.2:p.Ser1140del
ENST00000352993.7:c.671-1081_671-1079del	ENSP00000312236.5:n.671-1081_671-1079del
ENST00000354071.7:c.3418_3420del	ENSP00000326002.7:p.Ser1140del
ENST00000357654.7:c.3418_3420del	ENSP00000350283.3:p.Ser1140del
ENST00000461221.5:c.*3201_*3203del	ENSP00000418548.1:n.*3201_*3203del
ENST00000468300.5:c.788-1081_788-1079del	ENSP00000417148.1:n.788-1081_788-1079del
ENST00000471181.6:c.3418_3420del	ENSP00000418960.2:p.Ser1140del
ENST00000478531.5:c.785-1081_785-1079del	ENSP00000420412.1:n.785-1081_785-1079del
ENST00000484087.5:c.410-1081_410-1079del	ENSP00000419481.1:n.410-1081_410-1079del
ENST00000487825.5:c.413-1081_413-1079del	ENSP00000418212.1:n.413-1081_413-1079del
ENST00000491747.6:c.788-1081_788-1079del	ENSP00000420705.2:n.788-1081_788-1079del
ENST00000493795.5:c.3277_3279del	ENSP00000418775.1:p.Ser1093del
ENST00000493919.5:c.647-1081_647-1079del	ENSP00000418819.1:n.647-1081_647-1079del
ENST00000586385.5:c.5-28162_5-28160del	ENSP00000465818.1:n.5-28162_5-28160del
ENST00000591534.5:c.-43-17592_-43-17590del	ENSP00000467329.1:n.-43-17592_-43-17590del
ENST00000591849.5:c.-99+33158_-99+33160del	ENSP00000465347.1:n.-99+33158_-99+33160del
NM_007294.3:c.3418_3420del , LRG_292t1:c.3418_3420del	NP_009225.1:p.Ser1140del
NM_007297.3:c.3277_3279del	NP_009228.2:p.Ser1093del
NM_007298.3:c.788-1081_788-1079del	NP_009229.2:n.788-1081_788-1079del
NM_007299.3:c.788-1081_788-1079del	NP_009230.2:n.788-1081_788-1079del
NM_007300.3:c.3418_3420del	NP_009231.2:p.Ser1140del
NR_027676.1:n.3554_3556del
NM_007294.4:c.3418_3420del MANE Select	NP_009225.1:p.Ser1140del
NM_007297.4:c.3277_3279del	NP_009228.2:p.Ser1093del
NM_007299.4:c.788-1081_788-1079del	NP_009230.2:n.788-1081_788-1079del
NM_007300.4:c.3418_3420del	NP_009231.2:p.Ser1140del
NR_027676.2:n.3595_3597del