Canonical Allele Identifier: CA003921

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55723
• ClinVar RCV Id: RCV000019258 ; RCV000049156 ; RCV000074602 ; RCV000129599 ; RCV000468976 ; RCV000735513
• dbSNP Id: rs387906563
• gnomAD v2: 17-41246723-G-GCCACATGGCT
• gnomAD v3: 17-43094706-G-GCCACATGGCT
• gnomAD v4: 17-43094706-G-GCCACATGGCT
• MyVariant Identifiers: chr17:g.41246724_41246733dupCCACATGGCT (hg19) ; chr17:g.41246723_41246724insCCACATGGCT (hg19) ; chr17:g.43094707_43094716dupCCACATGGCT (hg38) ; chr17:g.43094706_43094707insCCACATGGCT (hg38)
• PubMed: PMID:9150149 ; PMID:10417303 ; PMID:10480351 ; PMID:11250694 ; PMID:12491487 ; PMID:15533909 ; PMID:17591843 ; PMID:19241424 ; PMID:20838878 ; PMID:21120943 ; PMID:21913181 ; PMID:22006311 ; PMID:22739995 ; PMID:22762150 ; PMID:22848303 ; PMID:26295337 ; PMID:28944232

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094714_43094723dup , CM000679.2:g.43094714_43094723dup	GRCh38
NC_000017.10:g.41246731_41246740dup , CM000679.1:g.41246731_41246740dup	GRCh37
NC_000017.9:g.38500257_38500266dup	NCBI36
NG_005905.2:g.123268_123277dup , LRG_292:g.123268_123277dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.879_888dup
ENST00000461574.2:c.815_824dup	ENSP00000417241.2:p.Thr276AlafsTer14
ENST00000470026.6:c.815_824dup	ENSP00000419274.2:p.Thr276AlafsTer14
ENST00000473961.6:c.689_698dup	ENSP00000420201.2:p.Thr234AlafsTer14
ENST00000476777.6:c.812_821dup	ENSP00000417554.2:p.Thr275AlafsTer14
ENST00000477152.6:c.737_746dup	ENSP00000419988.2:p.Thr250AlafsTer14
ENST00000478531.6:c.784+28_784+37dup	ENSP00000420412.2:n.784+28_784+37dup
ENST00000489037.2:c.737_746dup	ENSP00000420781.2:p.Thr250AlafsTer14
ENST00000493919.6:c.646+28_646+37dup	ENSP00000418819.2:n.646+28_646+37dup
ENST00000494123.6:c.815_824dup	ENSP00000419103.2:p.Thr276AlafsTer14
ENST00000497488.2:c.-74_-65dup	ENSP00000418986.2:n.-74_-65dup
ENST00000618469.2:c.815_824dup	ENSP00000478114.2:p.Thr276AlafsTer14
ENST00000634433.2:c.692_701dup	ENSP00000489431.2:p.Thr235AlafsTer14
ENST00000644379.2:c.815_824dup	ENSP00000496570.2:p.Thr276AlafsTer14
ENST00000644555.2:c.646+28_646+37dup	ENSP00000494614.2:n.646+28_646+37dup
ENST00000652672.2:c.674_683dup	ENSP00000498906.2:p.Thr229AlafsTer14
ENST00000484087.6:c.664+28_664+37dup	ENSP00000419481.2:n.664+28_664+37dup
ENST00000700182.1:c.706+28_706+37dup	ENSP00000514849.1:n.706+28_706+37dup
ENST00000700183.1:c.*823_*832dup	ENSP00000514850.1:n.*823_*832dup
ENST00000357654.9:c.815_824dup MANE Select	ENSP00000350283.3:p.Thr276AlafsTer14
ENST00000471181.7:c.815_824dup	ENSP00000418960.2:p.Thr276AlafsTer14
ENST00000642945.1:c.*689_*698dup	ENSP00000495897.1:n.*689_*698dup
ENST00000652672.1:c.674_683dup	ENSP00000498906.1:p.Thr229AlafsTer14
ENST00000352993.7:c.670+1130_670+1139dup	ENSP00000312236.5:n.670+1130_670+1139dup
ENST00000354071.7:c.815_824dup	ENSP00000326002.7:p.Thr276AlafsTer14
ENST00000357654.7:c.815_824dup	ENSP00000350283.3:p.Thr276AlafsTer14
ENST00000412061.3:c.166_175dup
ENST00000461221.5:c.*598_*607dup	ENSP00000418548.1:n.*598_*607dup
ENST00000468300.5:c.787+28_787+37dup	ENSP00000417148.1:n.787+28_787+37dup
ENST00000470026.5:c.815_824dup	ENSP00000419274.1:p.Thr276AlafsTer14
ENST00000471181.6:c.815_824dup	ENSP00000418960.2:p.Thr276AlafsTer14
ENST00000473961.5:c.412_421dup
ENST00000477152.5:c.737_746dup	ENSP00000419988.1:p.Thr250AlafsTer14
ENST00000478531.5:c.784+28_784+37dup	ENSP00000420412.1:n.784+28_784+37dup
ENST00000484087.5:c.409+28_409+37dup	ENSP00000419481.1:n.409+28_409+37dup
ENST00000487825.5:c.412+28_412+37dup	ENSP00000418212.1:n.412+28_412+37dup
ENST00000491747.6:c.787+28_787+37dup	ENSP00000420705.2:n.787+28_787+37dup
ENST00000492859.5:c.*751_*760dup	ENSP00000420253.1:n.*751_*760dup
ENST00000493795.5:c.674_683dup	ENSP00000418775.1:p.Thr229AlafsTer14
ENST00000493919.5:c.646+28_646+37dup	ENSP00000418819.1:n.646+28_646+37dup
ENST00000494123.5:c.815_824dup	ENSP00000419103.1:p.Thr276AlafsTer14
ENST00000497488.1:c.-74_-65dup	ENSP00000418986.1:n.-74_-65dup
ENST00000586385.5:c.4+30466_4+30475dup	ENSP00000465818.1:n.4+30466_4+30475dup
ENST00000591534.5:c.-43-20195_-43-20186dup	ENSP00000467329.1:n.-43-20195_-43-20186du...
ENST00000591849.5:c.-99+30555_-99+30564dup	ENSP00000465347.1:n.-99+30555_-99+30564du...
ENST00000634433.1:c.692_701dup	ENSP00000489431.1:p.Thr235AlafsTer14
NM_007294.3:c.815_824dup , LRG_292t1:c.815_824dup	NP_009225.1:p.Thr276AlafsTer14
NM_007297.3:c.674_683dup	NP_009228.2:p.Thr229AlafsTer14
NM_007298.3:c.787+28_787+37dup	NP_009229.2:n.787+28_787+37dup
NM_007299.3:c.787+28_787+37dup	NP_009230.2:n.787+28_787+37dup
NM_007300.3:c.815_824dup	NP_009231.2:p.Thr276AlafsTer14
NR_027676.1:n.951_960dup
NM_007294.4:c.815_824dup MANE Select	NP_009225.1:p.Thr276AlafsTer14
NM_007297.4:c.674_683dup	NP_009228.2:p.Thr229AlafsTer14
NM_007299.4:c.787+28_787+37dup	NP_009230.2:n.787+28_787+37dup
NM_007300.4:c.815_824dup	NP_009231.2:p.Thr276AlafsTer14
NR_027676.2:n.992_1001dup