Canonical Allele Identifier: CA919844244

Gene: BRCA1

Linked Data

• dbSNP Id: rs1567777753

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074357_43074364del , CM000679.2:g.43074357_43074364del	GRCh38
NC_000017.10:g.41226374_41226381del , CM000679.1:g.41226374_41226381del	GRCh37
NC_000017.9:g.38479900_38479907del	NCBI36
NG_005905.2:g.143621_143628del , LRG_292:g.143621_143628del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4640_4647del	ENSP00000417241.2:p.Thr1547IlefsTer23
ENST00000470026.6:c.4643_4650del	ENSP00000419274.2:p.Thr1548IlefsTer23
ENST00000473961.6:c.4517_4524del	ENSP00000420201.2:p.Thr1506IlefsTer23
ENST00000476777.6:c.4637_4644del	ENSP00000417554.2:p.Thr1546IlefsTer23
ENST00000477152.6:c.4565_4572del	ENSP00000419988.2:p.Thr1522IlefsTer23
ENST00000478531.6:c.1331_1338del	ENSP00000420412.2:p.Thr444IlefsTer23
ENST00000489037.2:c.4565_4572del	ENSP00000420781.2:p.Thr1522IlefsTer23
ENST00000493919.6:c.1193_1200del	ENSP00000418819.2:p.Thr398IlefsTer23
ENST00000494123.6:c.4643_4650del	ENSP00000419103.2:p.Thr1548IlefsTer23
ENST00000497488.2:c.3755_3762del	ENSP00000418986.2:p.Thr1252IlefsTer23
ENST00000618469.2:c.4643_4650del	ENSP00000478114.2:p.Thr1548IlefsTer23
ENST00000634433.2:c.4520_4527del	ENSP00000489431.2:p.Thr1507IlefsTer23
ENST00000644379.2:c.4709_4716del	ENSP00000496570.2:p.Thr1570IlefsTer23
ENST00000644555.2:c.1193_1200del	ENSP00000494614.2:p.Thr398IlefsTer23
ENST00000652672.2:c.4502_4509del	ENSP00000498906.2:p.Thr1501IlefsTer23
ENST00000484087.6:c.1205_1212del	ENSP00000419481.2:p.Thr402IlefsTer23
ENST00000700182.1:c.1250_1257del	ENSP00000514849.1:p.Thr417IlefsTer23
ENST00000357654.9:c.4643_4650del MANE Select	ENSP00000350283.3:p.Thr1548IlefsTer23
ENST00000471181.7:c.4706_4713del	ENSP00000418960.2:p.Thr1569IlefsTer23
ENST00000644379.1:c.1030_1037del
ENST00000352993.7:c.1217_1224del	ENSP00000312236.5:p.Thr406IlefsTer23
ENST00000357654.7:c.4643_4650del	ENSP00000350283.3:p.Thr1548IlefsTer23
ENST00000461221.5:c.*4426_*4433del	ENSP00000418548.1:n.*4426_*4433del
ENST00000468300.5:c.1331_1338del	ENSP00000417148.1:p.Thr444IlefsTer23
ENST00000471181.6:c.4706_4713del	ENSP00000418960.2:p.Thr1569IlefsTer23
ENST00000478531.5:c.1331_1338del	ENSP00000420412.1:p.Thr444IlefsTer23
ENST00000484087.5:c.956_963del	ENSP00000419481.1:p.Thr319IlefsTer23
ENST00000491747.6:c.1331_1338del	ENSP00000420705.2:p.Thr444IlefsTer23
ENST00000493795.5:c.4502_4509del	ENSP00000418775.1:p.Thr1501IlefsTer23
ENST00000493919.5:c.1193_1200del	ENSP00000418819.1:p.Thr398IlefsTer23
ENST00000586385.5:c.5-10412_5-10405del	ENSP00000465818.1:n.5-10412_5-10405del
ENST00000591534.5:c.116_123del	ENSP00000467329.1:p.Thr39IlefsTer23
ENST00000591849.5:c.-98-24173_-98-24166del	ENSP00000465347.1:n.-98-24173_-98-24166del
NM_007294.3:c.4643_4650del , LRG_292t1:c.4643_4650del	NP_009225.1:p.Thr1548IlefsTer23
NM_007297.3:c.4502_4509del	NP_009228.2:p.Thr1501IlefsTer23
NM_007298.3:c.1331_1338del	NP_009229.2:p.Thr444IlefsTer23
NM_007299.3:c.1331_1338del	NP_009230.2:p.Thr444IlefsTer23
NM_007300.3:c.4706_4713del	NP_009231.2:p.Thr1569IlefsTer23
NR_027676.1:n.4779_4786del
NM_007294.4:c.4643_4650del MANE Select	NP_009225.1:p.Thr1548IlefsTer23
NM_007297.4:c.4502_4509del	NP_009228.2:p.Thr1501IlefsTer23
NM_007299.4:c.1331_1338del	NP_009230.2:p.Thr444IlefsTer23
NM_007300.4:c.4706_4713del	NP_009231.2:p.Thr1569IlefsTer23
NR_027676.2:n.4820_4827del