Canonical Allele Identifier: CA658761226

Gene: BRCA1

Linked Data

• PubMed: PMID:22762150

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067652del , CM000679.2:g.43067652del	GRCh38
NC_000017.10:g.41219669del , CM000679.1:g.41219669del	GRCh37
NC_000017.9:g.38473195del	NCBI36
NG_005905.2:g.150332del , LRG_292:g.150332del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5027del	ENSP00000417241.2:p.Thr1676IlefsTer3
ENST00000470026.6:c.5030del	ENSP00000419274.2:p.Thr1677IlefsTer3
ENST00000473961.6:c.4904del	ENSP00000420201.2:p.Thr1635IlefsTer3
ENST00000476777.6:c.5024del	ENSP00000417554.2:p.Thr1675IlefsTer3
ENST00000477152.6:c.4952del	ENSP00000419988.2:p.Thr1651IlefsTer3
ENST00000478531.6:c.1718del	ENSP00000420412.2:p.Thr573IlefsTer3
ENST00000489037.2:c.4952del	ENSP00000420781.2:p.Thr1651IlefsTer3
ENST00000493919.6:c.1580del	ENSP00000418819.2:p.Thr527IlefsTer3
ENST00000494123.6:c.5030del	ENSP00000419103.2:p.Thr1677IlefsTer3
ENST00000497488.2:c.4142del	ENSP00000418986.2:p.Thr1381IlefsTer3
ENST00000618469.2:c.5030del	ENSP00000478114.2:p.Thr1677IlefsTer3
ENST00000634433.2:c.4907del	ENSP00000489431.2:p.Thr1636IlefsTer3
ENST00000644379.2:c.5096del	ENSP00000496570.2:p.Thr1699IlefsTer3
ENST00000644555.2:c.1580del	ENSP00000494614.2:p.Thr527IlefsTer3
ENST00000652672.2:c.4889del	ENSP00000498906.2:p.Thr1630IlefsTer3
ENST00000484087.6:c.1592del	ENSP00000419481.2:p.Thr531IlefsTer3
ENST00000357654.9:c.5030del MANE Select	ENSP00000350283.3:p.Thr1677IlefsTer3
ENST00000471181.7:c.5093del	ENSP00000418960.2:p.Thr1698IlefsTer3
ENST00000644379.1:c.1417del
ENST00000352993.7:c.1604del	ENSP00000312236.5:p.Thr535IlefsTer3
ENST00000357654.7:c.5030del	ENSP00000350283.3:p.Thr1677IlefsTer3
ENST00000461221.5:c.*4813del	ENSP00000418548.1:n.*4813del
ENST00000468300.5:c.1718del	ENSP00000417148.1:p.Thr573IlefsTer3
ENST00000471181.6:c.5093del	ENSP00000418960.2:p.Thr1698IlefsTer3
ENST00000472490.1:n.183del
ENST00000478531.5:c.1718del	ENSP00000420412.1:p.Thr573IlefsTer3
ENST00000484087.5:c.1343del	ENSP00000419481.1:p.Thr448IlefsTer3
ENST00000491747.6:c.1718del	ENSP00000420705.2:p.Thr573IlefsTer3
ENST00000493795.5:c.4889del	ENSP00000418775.1:p.Thr1630IlefsTer3
ENST00000493919.5:c.1580del	ENSP00000418819.1:p.Thr527IlefsTer3
ENST00000586385.5:c.5-3701del	ENSP00000465818.1:n.5-3701del
ENST00000591534.5:c.503del	ENSP00000467329.1:p.Thr168IlefsTer3
ENST00000591849.5:c.-98-17462del	ENSP00000465347.1:n.-98-17462del
NM_007294.3:c.5030del , LRG_292t1:c.5030del	NP_009225.1:p.Thr1677IlefsTer3
NM_007297.3:c.4889del	NP_009228.2:p.Thr1630IlefsTer3
NM_007298.3:c.1718del	NP_009229.2:p.Thr573IlefsTer3
NM_007299.3:c.1718del	NP_009230.2:p.Thr573IlefsTer3
NM_007300.3:c.5093del	NP_009231.2:p.Thr1698IlefsTer3
NR_027676.1:n.5166del
NM_007294.4:c.5030del MANE Select	NP_009225.1:p.Thr1677IlefsTer3
NM_007297.4:c.4889del	NP_009228.2:p.Thr1630IlefsTer3
NM_007299.4:c.1718del	NP_009230.2:p.Thr573IlefsTer3
NM_007300.4:c.5093del	NP_009231.2:p.Thr1698IlefsTer3
NR_027676.2:n.5207del