Canonical Allele Identifier: CA002271

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 54915
• ClinVar RCV Id: RCV000112117 ; RCV002513659
• dbSNP Id: rs273899709
• MyVariant Identifiers: chr17:g.41243998_41243999delinsA (hg19) ; chr17:g.43091981_43091982delinsA (hg38)
• PubMed: PMID:9150151

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091981_43091982delinsA , CM000679.2:g.43091981_43091982delinsA	GRCh38
NC_000017.10:g.41243998_41243999delinsA , CM000679.1:g.41243998_41243999delinsA	GRCh37
NC_000017.9:g.38497524_38497525delinsA	NCBI36
NG_005905.2:g.126002_126003delinsT , LRG_292:g.126002_126003delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3613_3614delinsT
ENST00000461574.2:c.3549_3550delinsT	ENSP00000417241.2:p.Lys1183AsnfsTer27
ENST00000470026.6:c.3549_3550delinsT	ENSP00000419274.2:p.Lys1183AsnfsTer27
ENST00000473961.6:c.3423_3424delinsT	ENSP00000420201.2:p.Lys1141AsnfsTer27
ENST00000476777.6:c.3546_3547delinsT	ENSP00000417554.2:p.Lys1182AsnfsTer27
ENST00000477152.6:c.3471_3472delinsT	ENSP00000419988.2:p.Lys1157AsnfsTer27
ENST00000478531.6:c.785-950_785-949delinsT	ENSP00000420412.2:n.785-950_785-949delinsT
ENST00000489037.2:c.3471_3472delinsT	ENSP00000420781.2:p.Lys1157AsnfsTer27
ENST00000493919.6:c.647-950_647-949delinsT	ENSP00000418819.2:n.647-950_647-949delinsT
ENST00000494123.6:c.3549_3550delinsT	ENSP00000419103.2:p.Lys1183AsnfsTer27
ENST00000497488.2:c.2661_2662delinsT	ENSP00000418986.2:p.Lys887AsnfsTer27
ENST00000618469.2:c.3549_3550delinsT	ENSP00000478114.2:p.Lys1183AsnfsTer27
ENST00000634433.2:c.3426_3427delinsT	ENSP00000489431.2:p.Lys1142AsnfsTer27
ENST00000644379.2:c.3549_3550delinsT	ENSP00000496570.2:p.Lys1183AsnfsTer27
ENST00000644555.2:c.647-950_647-949delinsT	ENSP00000494614.2:n.647-950_647-949delinsT
ENST00000652672.2:c.3408_3409delinsT	ENSP00000498906.2:p.Lys1136AsnfsTer27
ENST00000484087.6:c.665-950_665-949delinsT	ENSP00000419481.2:n.665-950_665-949delinsT
ENST00000700182.1:c.707-950_707-949delinsT	ENSP00000514849.1:n.707-950_707-949delinsT
ENST00000357654.9:c.3549_3550delinsT MANE Select	ENSP00000350283.3:p.Lys1183AsnfsTer27
ENST00000471181.7:c.3549_3550delinsT	ENSP00000418960.2:p.Lys1183AsnfsTer27
ENST00000352993.7:c.671-950_671-949delinsT	ENSP00000312236.5:n.671-950_671-949delinsT
ENST00000354071.7:c.3549_3550delinsT	ENSP00000326002.7:p.Lys1183AsnfsTer27
ENST00000357654.7:c.3549_3550delinsT	ENSP00000350283.3:p.Lys1183AsnfsTer27
ENST00000461221.5:c.*3332_*3333delinsT	ENSP00000418548.1:n.*3332_*3333delinsT
ENST00000468300.5:c.788-950_788-949delinsT	ENSP00000417148.1:n.788-950_788-949delinsT
ENST00000471181.6:c.3549_3550delinsT	ENSP00000418960.2:p.Lys1183AsnfsTer27
ENST00000478531.5:c.785-950_785-949delinsT	ENSP00000420412.1:n.785-950_785-949delinsT
ENST00000484087.5:c.410-950_410-949delinsT	ENSP00000419481.1:n.410-950_410-949delinsT
ENST00000487825.5:c.413-950_413-949delinsT	ENSP00000418212.1:n.413-950_413-949delinsT
ENST00000491747.6:c.788-950_788-949delinsT	ENSP00000420705.2:n.788-950_788-949delinsT
ENST00000493795.5:c.3408_3409delinsT	ENSP00000418775.1:p.Lys1136AsnfsTer27
ENST00000493919.5:c.647-950_647-949delinsT	ENSP00000418819.1:n.647-950_647-949delinsT
ENST00000586385.5:c.5-28031_5-28030delinsT	ENSP00000465818.1:n.5-28031_5-28030delinsT
ENST00000591534.5:c.-43-17461_-43-17460delinsT	ENSP00000467329.1:n.-43-17461_-43-17460delinsT
ENST00000591849.5:c.-99+33289_-99+33290delinsT	ENSP00000465347.1:n.-99+33289_-99+33290delinsT
NM_007294.3:c.3549_3550delinsT , LRG_292t1:c.3549_3550delinsT	NP_009225.1:p.Lys1183AsnfsTer27
NM_007297.3:c.3408_3409delinsT	NP_009228.2:p.Lys1136AsnfsTer27
NM_007298.3:c.788-950_788-949delinsT	NP_009229.2:n.788-950_788-949delinsT
NM_007299.3:c.788-950_788-949delinsT	NP_009230.2:n.788-950_788-949delinsT
NM_007300.3:c.3549_3550delinsT	NP_009231.2:p.Lys1183AsnfsTer27
NR_027676.1:n.3685_3686delinsT
NM_007294.4:c.3549_3550delinsT MANE Select	NP_009225.1:p.Lys1183AsnfsTer27
NM_007297.4:c.3408_3409delinsT	NP_009228.2:p.Lys1136AsnfsTer27
NM_007299.4:c.788-950_788-949delinsT	NP_009230.2:n.788-950_788-949delinsT
NM_007300.4:c.3549_3550delinsT	NP_009231.2:p.Lys1183AsnfsTer27
NR_027676.2:n.3726_3727delinsT