Canonical Allele Identifier: CA2695201339

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2673991
• ClinVar RCV Id: RCV003450593

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082519dup , CM000679.2:g.43082519dup	GRCh38
NC_000017.10:g.41234536dup , CM000679.1:g.41234536dup	GRCh37
NC_000017.9:g.38488062dup	NCBI36
NG_005905.2:g.135465dup , LRG_292:g.135465dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4242dup	ENSP00000417241.2:p.Glu1415ArgfsTer13
ENST00000470026.6:c.4242dup	ENSP00000419274.2:p.Glu1415ArgfsTer13
ENST00000473961.6:c.4116dup	ENSP00000420201.2:p.Glu1373ArgfsTer13
ENST00000476777.6:c.4236dup	ENSP00000417554.2:p.Glu1413ArgfsTer13
ENST00000477152.6:c.4164dup	ENSP00000419988.2:p.Glu1389ArgfsTer13
ENST00000478531.6:c.930dup	ENSP00000420412.2:p.Glu311ArgfsTer13
ENST00000489037.2:c.4164dup	ENSP00000420781.2:p.Glu1389ArgfsTer13
ENST00000493919.6:c.792dup	ENSP00000418819.2:p.Glu265ArgfsTer13
ENST00000494123.6:c.4242dup	ENSP00000419103.2:p.Glu1415ArgfsTer13
ENST00000497488.2:c.3354dup	ENSP00000418986.2:p.Glu1119ArgfsTer13
ENST00000618469.2:c.4242dup	ENSP00000478114.2:p.Glu1415ArgfsTer13
ENST00000634433.2:c.4119dup	ENSP00000489431.2:p.Glu1374ArgfsTer13
ENST00000644379.2:c.4242dup	ENSP00000496570.2:p.Glu1415ArgfsTer13
ENST00000644555.2:c.792dup	ENSP00000494614.2:p.Glu265ArgfsTer13
ENST00000652672.2:c.4101dup	ENSP00000498906.2:p.Glu1368ArgfsTer13
ENST00000484087.6:c.807dup	ENSP00000419481.2:p.Glu270ArgfsTer13
ENST00000700182.1:c.852dup	ENSP00000514849.1:p.Glu285ArgfsTer13
ENST00000357654.9:c.4242dup MANE Select	ENSP00000350283.3:p.Glu1415ArgfsTer13
ENST00000471181.7:c.4242dup	ENSP00000418960.2:p.Glu1415ArgfsTer13
ENST00000644379.1:c.563dup
ENST00000352993.7:c.816dup	ENSP00000312236.5:p.Glu273ArgfsTer13
ENST00000357654.7:c.4242dup	ENSP00000350283.3:p.Glu1415ArgfsTer13
ENST00000461221.5:c.*4025dup	ENSP00000418548.1:n.*4025dup
ENST00000461574.1:c.536dup
ENST00000468300.5:c.933dup	ENSP00000417148.1:p.Glu312ArgfsTer13
ENST00000471181.6:c.4242dup	ENSP00000418960.2:p.Glu1415ArgfsTer13
ENST00000478531.5:c.930dup	ENSP00000420412.1:p.Glu311ArgfsTer13
ENST00000484087.5:c.555dup	ENSP00000419481.1:p.Glu186ArgfsTer13
ENST00000487825.5:c.558dup	ENSP00000418212.1:p.Glu187ArgfsTer13
ENST00000491747.6:c.933dup	ENSP00000420705.2:p.Glu312ArgfsTer13
ENST00000493795.5:c.4101dup	ENSP00000418775.1:p.Glu1368ArgfsTer13
ENST00000493919.5:c.792dup	ENSP00000418819.1:p.Glu265ArgfsTer13
ENST00000586385.5:c.5-18568dup	ENSP00000465818.1:n.5-18568dup
ENST00000591534.5:c.-43-7998dup	ENSP00000467329.1:n.-43-7998dup
ENST00000591849.5:c.-98-32329dup	ENSP00000465347.1:n.-98-32329dup
ENST00000621897.1:n.136dup
NM_007294.3:c.4242dup , LRG_292t1:c.4242dup	NP_009225.1:p.Glu1415ArgfsTer13
NM_007297.3:c.4101dup	NP_009228.2:p.Glu1368ArgfsTer13
NM_007298.3:c.933dup	NP_009229.2:p.Glu312ArgfsTer13
NM_007299.3:c.933dup	NP_009230.2:p.Glu312ArgfsTer13
NM_007300.3:c.4242dup	NP_009231.2:p.Glu1415ArgfsTer13
NR_027676.1:n.4378dup
NM_007294.4:c.4242dup MANE Select	NP_009225.1:p.Glu1415ArgfsTer13
NM_007297.4:c.4101dup	NP_009228.2:p.Glu1368ArgfsTer13
NM_007299.4:c.933dup	NP_009230.2:p.Glu312ArgfsTer13
NM_007300.4:c.4242dup	NP_009231.2:p.Glu1415ArgfsTer13
NR_027676.2:n.4419dup