Canonical Allele Identifier: CA002807

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 186693
• ClinVar RCV Id: RCV000166328 ; RCV000241073 ; RCV000702789
• dbSNP Id: rs786203149
• MyVariant Identifiers: chr17:g.41228610del (hg19) ; chr17:g.43076593del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076593del , CM000679.2:g.43076593del	GRCh38
NC_000017.10:g.41228610del , CM000679.1:g.41228610del	GRCh37
NC_000017.9:g.38482136del	NCBI36
NG_005905.2:g.141391del , LRG_292:g.141391del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4376del	ENSP00000417241.2:p.Ser1459IlefsTer6
ENST00000470026.6:c.4379del	ENSP00000419274.2:p.Ser1460IlefsTer6
ENST00000473961.6:c.4253del	ENSP00000420201.2:p.Ser1418IlefsTer6
ENST00000476777.6:c.4373del	ENSP00000417554.2:p.Ser1458IlefsTer6
ENST00000477152.6:c.4301del	ENSP00000419988.2:p.Ser1434IlefsTer6
ENST00000478531.6:c.1067del	ENSP00000420412.2:p.Ser356IlefsTer6
ENST00000489037.2:c.4301del	ENSP00000420781.2:p.Ser1434IlefsTer6
ENST00000493919.6:c.929del	ENSP00000418819.2:p.Ser310IlefsTer6
ENST00000494123.6:c.4379del	ENSP00000419103.2:p.Ser1460IlefsTer6
ENST00000497488.2:c.3491del	ENSP00000418986.2:p.Ser1164IlefsTer6
ENST00000618469.2:c.4379del	ENSP00000478114.2:p.Ser1460IlefsTer6
ENST00000634433.2:c.4256del	ENSP00000489431.2:p.Ser1419IlefsTer6
ENST00000644379.2:c.4445del	ENSP00000496570.2:p.Ser1482IlefsTer6
ENST00000644555.2:c.929del	ENSP00000494614.2:p.Ser310IlefsTer6
ENST00000652672.2:c.4238del	ENSP00000498906.2:p.Ser1413IlefsTer6
ENST00000484087.6:c.941del	ENSP00000419481.2:p.Ser314IlefsTer6
ENST00000700182.1:c.986del	ENSP00000514849.1:p.Ser329IlefsTer6
ENST00000357654.9:c.4379del MANE Select	ENSP00000350283.3:p.Ser1460IlefsTer6
ENST00000471181.7:c.4442del	ENSP00000418960.2:p.Ser1481IlefsTer6
ENST00000644379.1:c.766del
ENST00000352993.7:c.953del	ENSP00000312236.5:p.Ser318IlefsTer6
ENST00000357654.7:c.4379del	ENSP00000350283.3:p.Ser1460IlefsTer6
ENST00000461221.5:c.*4162del	ENSP00000418548.1:n.*4162del
ENST00000461574.1:c.670del
ENST00000468300.5:c.1067del	ENSP00000417148.1:p.Ser356IlefsTer6
ENST00000471181.6:c.4442del	ENSP00000418960.2:p.Ser1481IlefsTer6
ENST00000478531.5:c.1067del	ENSP00000420412.1:p.Ser356IlefsTer6
ENST00000484087.5:c.692del	ENSP00000419481.1:p.Ser231IlefsTer6
ENST00000487825.5:c.695del	ENSP00000418212.1:p.Ser232IlefsTer6
ENST00000491747.6:c.1067del	ENSP00000420705.2:p.Ser356IlefsTer6
ENST00000493795.5:c.4238del	ENSP00000418775.1:p.Ser1413IlefsTer6
ENST00000493919.5:c.929del	ENSP00000418819.1:p.Ser310IlefsTer6
ENST00000586385.5:c.5-12642del	ENSP00000465818.1:n.5-12642del
ENST00000591534.5:c.-43-2072del	ENSP00000467329.1:n.-43-2072del
ENST00000591849.5:c.-98-26403del	ENSP00000465347.1:n.-98-26403del
ENST00000621897.1:n.270del
NM_007294.3:c.4379del , LRG_292t1:c.4379del	NP_009225.1:p.Ser1460IlefsTer6
NM_007297.3:c.4238del	NP_009228.2:p.Ser1413IlefsTer6
NM_007298.3:c.1067del	NP_009229.2:p.Ser356IlefsTer6
NM_007299.3:c.1067del	NP_009230.2:p.Ser356IlefsTer6
NM_007300.3:c.4442del	NP_009231.2:p.Ser1481IlefsTer6
NR_027676.1:n.4515del
NM_007294.4:c.4379del MANE Select	NP_009225.1:p.Ser1460IlefsTer6
NM_007297.4:c.4238del	NP_009228.2:p.Ser1413IlefsTer6
NM_007299.4:c.1067del	NP_009230.2:p.Ser356IlefsTer6
NM_007300.4:c.4442del	NP_009231.2:p.Ser1481IlefsTer6
NR_027676.2:n.4556del