Canonical Allele Identifier: CA10589711

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266420
• ClinVar RCV Id: RCV000257467
• dbSNP Id: rs886040178
• MyVariant Identifiers: chr17:g.41243593_41243596del (hg19) ; chr17:g.43091576_43091579del (hg38)
• PubMed: PMID:22762150

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091579_43091582del , CM000679.2:g.43091579_43091582del	GRCh38
NC_000017.10:g.41243596_41243599del , CM000679.1:g.41243596_41243599del	GRCh37
NC_000017.9:g.38497122_38497125del	NCBI36
NG_005905.2:g.126405_126408del , LRG_292:g.126405_126408del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.4016_4019del
ENST00000461574.2:c.3952_3955del	ENSP00000417241.2:p.Ile1318ValfsTer6
ENST00000470026.6:c.3952_3955del	ENSP00000419274.2:p.Ile1318ValfsTer6
ENST00000473961.6:c.3826_3829del	ENSP00000420201.2:p.Ile1276ValfsTer6
ENST00000476777.6:c.3949_3952del	ENSP00000417554.2:p.Ile1317ValfsTer6
ENST00000477152.6:c.3874_3877del	ENSP00000419988.2:p.Ile1292ValfsTer6
ENST00000478531.6:c.785-547_785-544del	ENSP00000420412.2:n.785-547_785-544del
ENST00000489037.2:c.3874_3877del	ENSP00000420781.2:p.Ile1292ValfsTer6
ENST00000493919.6:c.647-547_647-544del	ENSP00000418819.2:n.647-547_647-544del
ENST00000494123.6:c.3952_3955del	ENSP00000419103.2:p.Ile1318ValfsTer6
ENST00000497488.2:c.3064_3067del	ENSP00000418986.2:p.Ile1022ValfsTer6
ENST00000618469.2:c.3952_3955del	ENSP00000478114.2:p.Ile1318ValfsTer6
ENST00000634433.2:c.3829_3832del	ENSP00000489431.2:p.Ile1277ValfsTer6
ENST00000644379.2:c.3952_3955del	ENSP00000496570.2:p.Ile1318ValfsTer6
ENST00000644555.2:c.647-547_647-544del	ENSP00000494614.2:n.647-547_647-544del
ENST00000652672.2:c.3811_3814del	ENSP00000498906.2:p.Ile1271ValfsTer6
ENST00000484087.6:c.665-547_665-544del	ENSP00000419481.2:n.665-547_665-544del
ENST00000700182.1:c.707-547_707-544del	ENSP00000514849.1:n.707-547_707-544del
ENST00000357654.9:c.3952_3955del MANE Select	ENSP00000350283.3:p.Ile1318ValfsTer6
ENST00000471181.7:c.3952_3955del	ENSP00000418960.2:p.Ile1318ValfsTer6
ENST00000644379.1:c.273_276del
ENST00000352993.7:c.671-547_671-544del	ENSP00000312236.5:n.671-547_671-544del
ENST00000354071.7:c.3952_3955del	ENSP00000326002.7:p.Ile1318ValfsTer6
ENST00000357654.7:c.3952_3955del	ENSP00000350283.3:p.Ile1318ValfsTer6
ENST00000461221.5:c.*3735_*3738del	ENSP00000418548.1:n.*3735_*3738del
ENST00000461574.1:c.246_249del
ENST00000468300.5:c.788-547_788-544del	ENSP00000417148.1:n.788-547_788-544del
ENST00000471181.6:c.3952_3955del	ENSP00000418960.2:p.Ile1318ValfsTer6
ENST00000478531.5:c.785-547_785-544del	ENSP00000420412.1:n.785-547_785-544del
ENST00000484087.5:c.410-547_410-544del	ENSP00000419481.1:n.410-547_410-544del
ENST00000487825.5:c.413-547_413-544del	ENSP00000418212.1:n.413-547_413-544del
ENST00000491747.6:c.788-547_788-544del	ENSP00000420705.2:n.788-547_788-544del
ENST00000493795.5:c.3811_3814del	ENSP00000418775.1:p.Ile1271ValfsTer6
ENST00000493919.5:c.647-547_647-544del	ENSP00000418819.1:n.647-547_647-544del
ENST00000586385.5:c.5-27628_5-27625del	ENSP00000465818.1:n.5-27628_5-27625del
ENST00000591534.5:c.-43-17058_-43-17055del	ENSP00000467329.1:n.-43-17058_-43-17055del
ENST00000591849.5:c.-99+33692_-99+33695del	ENSP00000465347.1:n.-99+33692_-99+33695del
NM_007294.3:c.3952_3955del , LRG_292t1:c.3952_3955del	NP_009225.1:p.Ile1318ValfsTer6
NM_007297.3:c.3811_3814del	NP_009228.2:p.Ile1271ValfsTer6
NM_007298.3:c.788-547_788-544del	NP_009229.2:n.788-547_788-544del
NM_007299.3:c.788-547_788-544del	NP_009230.2:n.788-547_788-544del
NM_007300.3:c.3952_3955del	NP_009231.2:p.Ile1318ValfsTer6
NR_027676.1:n.4088_4091del
NM_007294.4:c.3952_3955del MANE Select	NP_009225.1:p.Ile1318ValfsTer6
NM_007297.4:c.3811_3814del	NP_009228.2:p.Ile1271ValfsTer6
NM_007299.4:c.788-547_788-544del	NP_009230.2:n.788-547_788-544del
NM_007300.4:c.3952_3955del	NP_009231.2:p.Ile1318ValfsTer6
NR_027676.2:n.4129_4132del