Canonical Allele Identifier: CA2733915916

Gene: BRCA1

Linked Data - Expert Curation

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076518del , CM000679.2:g.43076518del	GRCh38
NC_000017.10:g.41228535del , CM000679.1:g.41228535del	GRCh37
NC_000017.9:g.38482061del	NCBI36
NG_005905.2:g.141467del , LRG_292:g.141467del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4452del	ENSP00000417241.2:p.Ser1485ValfsTer19
ENST00000470026.6:c.4455del	ENSP00000419274.2:p.Ser1486ValfsTer19
ENST00000473961.6:c.4329del	ENSP00000420201.2:p.Ser1444ValfsTer19
ENST00000476777.6:c.4449del	ENSP00000417554.2:p.Ser1484ValfsTer19
ENST00000477152.6:c.4377del	ENSP00000419988.2:p.Ser1460ValfsTer19
ENST00000478531.6:c.1143del	ENSP00000420412.2:p.Ser382ValfsTer19
ENST00000489037.2:c.4377del	ENSP00000420781.2:p.Ser1460ValfsTer19
ENST00000493919.6:c.1005del	ENSP00000418819.2:p.Ser336ValfsTer19
ENST00000494123.6:c.4455del	ENSP00000419103.2:p.Ser1486ValfsTer19
ENST00000497488.2:c.3567del	ENSP00000418986.2:p.Ser1190ValfsTer19
ENST00000618469.2:c.4455del	ENSP00000478114.2:p.Ser1486ValfsTer19
ENST00000634433.2:c.4332del	ENSP00000489431.2:p.Ser1445ValfsTer19
ENST00000644379.2:c.4521del	ENSP00000496570.2:p.Ser1508ValfsTer19
ENST00000644555.2:c.1005del	ENSP00000494614.2:p.Ser336ValfsTer19
ENST00000652672.2:c.4314del	ENSP00000498906.2:p.Ser1439ValfsTer19
ENST00000484087.6:c.1017del	ENSP00000419481.2:p.Ser340ValfsTer19
ENST00000700182.1:c.1062del	ENSP00000514849.1:p.Ser355ValfsTer19
ENST00000357654.9:c.4455del MANE Select	ENSP00000350283.3:p.Ser1486ValfsTer19
ENST00000471181.7:c.4518del	ENSP00000418960.2:p.Ser1507ValfsTer19
ENST00000644379.1:c.842del
ENST00000352993.7:c.1029del	ENSP00000312236.5:p.Ser344ValfsTer19
ENST00000357654.7:c.4455del	ENSP00000350283.3:p.Ser1486ValfsTer19
ENST00000461221.5:c.*4238del	ENSP00000418548.1:n.*4238del
ENST00000468300.5:c.1143del	ENSP00000417148.1:p.Ser382ValfsTer19
ENST00000471181.6:c.4518del	ENSP00000418960.2:p.Ser1507ValfsTer19
ENST00000478531.5:c.1143del	ENSP00000420412.1:p.Ser382ValfsTer19
ENST00000484087.5:c.768del	ENSP00000419481.1:p.Ser257ValfsTer19
ENST00000487825.5:c.771del	ENSP00000418212.1:p.Ser258ValfsTer?
ENST00000491747.6:c.1143del	ENSP00000420705.2:p.Ser382ValfsTer19
ENST00000493795.5:c.4314del	ENSP00000418775.1:p.Ser1439ValfsTer19
ENST00000493919.5:c.1005del	ENSP00000418819.1:p.Ser336ValfsTer19
ENST00000586385.5:c.5-12566del	ENSP00000465818.1:n.5-12566del
ENST00000591534.5:c.-43-1996del	ENSP00000467329.1:n.-43-1996del
ENST00000591849.5:c.-98-26327del	ENSP00000465347.1:n.-98-26327del
ENST00000621897.1:n.346del
NM_007294.3:c.4455del , LRG_292t1:c.4455del	NP_009225.1:p.Ser1486ValfsTer19
NM_007297.3:c.4314del	NP_009228.2:p.Ser1439ValfsTer19
NM_007298.3:c.1143del	NP_009229.2:p.Ser382ValfsTer19
NM_007299.3:c.1143del	NP_009230.2:p.Ser382ValfsTer19
NM_007300.3:c.4518del	NP_009231.2:p.Ser1507ValfsTer19
NR_027676.1:n.4591del
NM_007294.4:c.4455del MANE Select	NP_009225.1:p.Ser1486ValfsTer19
NM_007297.4:c.4314del	NP_009228.2:p.Ser1439ValfsTer19
NM_007299.4:c.1143del	NP_009230.2:p.Ser382ValfsTer19
NM_007300.4:c.4518del	NP_009231.2:p.Ser1507ValfsTer19
NR_027676.2:n.4632del