Canonical Allele Identifier: CA002184

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 54859
• ClinVar RCV Id: RCV000112081 ; RCV000162863 ; RCV000759517 ; RCV000496347
• dbSNP Id: rs80357892
• MyVariant Identifiers: chr17:g.41244182_41244183del (hg19) ; chr17:g.43092165_43092166del (hg38)
• PubMed: PMID:16267036 ; PMID:26295337

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092166_43092167del , CM000679.2:g.43092166_43092167del	GRCh38
NC_000017.10:g.41244183_41244184del , CM000679.1:g.41244183_41244184del	GRCh37
NC_000017.9:g.38497709_38497710del	NCBI36
NG_005905.2:g.125818_125819del , LRG_292:g.125818_125819del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3429_3430del
ENST00000461574.2:c.3365_3366del	ENSP00000417241.2:p.Thr1122ArgfsTer10
ENST00000470026.6:c.3365_3366del	ENSP00000419274.2:p.Thr1122ArgfsTer10
ENST00000473961.6:c.3239_3240del	ENSP00000420201.2:p.Thr1080ArgfsTer10
ENST00000476777.6:c.3362_3363del	ENSP00000417554.2:p.Thr1121ArgfsTer10
ENST00000477152.6:c.3287_3288del	ENSP00000419988.2:p.Thr1096ArgfsTer10
ENST00000478531.6:c.785-1134_785-1133del	ENSP00000420412.2:n.785-1134_785-1133del
ENST00000489037.2:c.3287_3288del	ENSP00000420781.2:p.Thr1096ArgfsTer10
ENST00000493919.6:c.647-1134_647-1133del	ENSP00000418819.2:n.647-1134_647-1133del
ENST00000494123.6:c.3365_3366del	ENSP00000419103.2:p.Thr1122ArgfsTer10
ENST00000497488.2:c.2477_2478del	ENSP00000418986.2:p.Thr826ArgfsTer10
ENST00000618469.2:c.3365_3366del	ENSP00000478114.2:p.Thr1122ArgfsTer10
ENST00000634433.2:c.3242_3243del	ENSP00000489431.2:p.Thr1081ArgfsTer10
ENST00000644379.2:c.3365_3366del	ENSP00000496570.2:p.Thr1122ArgfsTer10
ENST00000644555.2:c.647-1134_647-1133del	ENSP00000494614.2:n.647-1134_647-1133del
ENST00000652672.2:c.3224_3225del	ENSP00000498906.2:p.Thr1075ArgfsTer10
ENST00000484087.6:c.665-1134_665-1133del	ENSP00000419481.2:n.665-1134_665-1133del
ENST00000700182.1:c.707-1134_707-1133del	ENSP00000514849.1:n.707-1134_707-1133del
ENST00000357654.9:c.3365_3366del MANE Select	ENSP00000350283.3:p.Thr1122ArgfsTer10
ENST00000471181.7:c.3365_3366del	ENSP00000418960.2:p.Thr1122ArgfsTer10
ENST00000352993.7:c.671-1134_671-1133del	ENSP00000312236.5:n.671-1134_671-1133del
ENST00000354071.7:c.3365_3366del	ENSP00000326002.7:p.Thr1122ArgfsTer10
ENST00000357654.7:c.3365_3366del	ENSP00000350283.3:p.Thr1122ArgfsTer10
ENST00000461221.5:c.*3148_*3149del	ENSP00000418548.1:n.*3148_*3149del
ENST00000468300.5:c.788-1134_788-1133del	ENSP00000417148.1:n.788-1134_788-1133del
ENST00000471181.6:c.3365_3366del	ENSP00000418960.2:p.Thr1122ArgfsTer10
ENST00000478531.5:c.785-1134_785-1133del	ENSP00000420412.1:n.785-1134_785-1133del
ENST00000484087.5:c.410-1134_410-1133del	ENSP00000419481.1:n.410-1134_410-1133del
ENST00000487825.5:c.413-1134_413-1133del	ENSP00000418212.1:n.413-1134_413-1133del
ENST00000491747.6:c.788-1134_788-1133del	ENSP00000420705.2:n.788-1134_788-1133del
ENST00000493795.5:c.3224_3225del	ENSP00000418775.1:p.Thr1075ArgfsTer10
ENST00000493919.5:c.647-1134_647-1133del	ENSP00000418819.1:n.647-1134_647-1133del
ENST00000586385.5:c.5-28215_5-28214del	ENSP00000465818.1:n.5-28215_5-28214del
ENST00000591534.5:c.-43-17645_-43-17644del	ENSP00000467329.1:n.-43-17645_-43-17644del
ENST00000591849.5:c.-99+33105_-99+33106del	ENSP00000465347.1:n.-99+33105_-99+33106del
NM_007294.3:c.3365_3366del , LRG_292t1:c.3365_3366del	NP_009225.1:p.Thr1122ArgfsTer10
NM_007297.3:c.3224_3225del	NP_009228.2:p.Thr1075ArgfsTer10
NM_007298.3:c.788-1134_788-1133del	NP_009229.2:n.788-1134_788-1133del
NM_007299.3:c.788-1134_788-1133del	NP_009230.2:n.788-1134_788-1133del
NM_007300.3:c.3365_3366del	NP_009231.2:p.Thr1122ArgfsTer10
NR_027676.1:n.3501_3502del
NM_007294.4:c.3365_3366del MANE Select	NP_009225.1:p.Thr1122ArgfsTer10
NM_007297.4:c.3224_3225del	NP_009228.2:p.Thr1075ArgfsTer10
NM_007299.4:c.788-1134_788-1133del	NP_009230.2:n.788-1134_788-1133del
NM_007300.4:c.3365_3366del	NP_009231.2:p.Thr1122ArgfsTer10
NR_027676.2:n.3542_3543del