Canonical Allele Identifier: CA2695225933

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082424del , CM000679.2:g.43082424del	GRCh38
NC_000017.10:g.41234441del , CM000679.1:g.41234441del	GRCh37
NC_000017.9:g.38487967del	NCBI36
NG_005905.2:g.135561del , LRG_292:g.135561del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4338del	ENSP00000417241.2:p.Glu1446AspfsTer9
ENST00000470026.6:c.4338del	ENSP00000419274.2:p.Glu1446AspfsTer10
ENST00000473961.6:c.4212del	ENSP00000420201.2:p.Glu1404AspfsTer10
ENST00000476777.6:c.4332del	ENSP00000417554.2:p.Glu1444AspfsTer10
ENST00000477152.6:c.4260del	ENSP00000419988.2:p.Glu1420AspfsTer10
ENST00000478531.6:c.1026del	ENSP00000420412.2:p.Glu342AspfsTer10
ENST00000489037.2:c.4260del	ENSP00000420781.2:p.Glu1420AspfsTer10
ENST00000493919.6:c.888del	ENSP00000418819.2:p.Glu296AspfsTer10
ENST00000494123.6:c.4338del	ENSP00000419103.2:p.Glu1446AspfsTer10
ENST00000497488.2:c.3450del	ENSP00000418986.2:p.Glu1150AspfsTer10
ENST00000618469.2:c.4338del	ENSP00000478114.2:p.Glu1446AspfsTer10
ENST00000634433.2:c.4215del	ENSP00000489431.2:p.Glu1405AspfsTer10
ENST00000644379.2:c.4338del	ENSP00000496570.2:p.Glu1446AspfsTer?
ENST00000644555.2:c.888del	ENSP00000494614.2:p.Glu296AspfsTer10
ENST00000652672.2:c.4197del	ENSP00000498906.2:p.Glu1399AspfsTer10
ENST00000484087.6:c.903del	ENSP00000419481.2:p.Glu301AspfsTer9
ENST00000700182.1:c.948del	ENSP00000514849.1:p.Glu316AspfsTer9
ENST00000357654.9:c.4338del MANE Select	ENSP00000350283.3:p.Glu1446AspfsTer10
ENST00000471181.7:c.4338del	ENSP00000418960.2:p.Glu1446AspfsTer?
ENST00000644379.1:c.659del
ENST00000352993.7:c.912del	ENSP00000312236.5:p.Glu304AspfsTer10
ENST00000357654.7:c.4338del	ENSP00000350283.3:p.Glu1446AspfsTer10
ENST00000461221.5:c.*4121del	ENSP00000418548.1:n.*4121del
ENST00000461574.1:c.632del
ENST00000468300.5:c.1029del	ENSP00000417148.1:p.Glu343AspfsTer9
ENST00000471181.6:c.4338del	ENSP00000418960.2:p.Glu1446AspfsTer?
ENST00000478531.5:c.1026del	ENSP00000420412.1:p.Glu342AspfsTer10
ENST00000484087.5:c.651del	ENSP00000419481.1:p.Glu217AspfsTer10
ENST00000487825.5:c.654del	ENSP00000418212.1:p.Glu218AspfsTer10
ENST00000491747.6:c.1029del	ENSP00000420705.2:p.Glu343AspfsTer9
ENST00000493795.5:c.4197del	ENSP00000418775.1:p.Glu1399AspfsTer10
ENST00000493919.5:c.888del	ENSP00000418819.1:p.Glu296AspfsTer10
ENST00000586385.5:c.5-18472del	ENSP00000465818.1:n.5-18472del
ENST00000591534.5:c.-43-7902del	ENSP00000467329.1:n.-43-7902del
ENST00000591849.5:c.-98-32233del	ENSP00000465347.1:n.-98-32233del
ENST00000621897.1:n.232del
NM_007294.3:c.4338del , LRG_292t1:c.4338del	NP_009225.1:p.Glu1446AspfsTer10
NM_007297.3:c.4197del	NP_009228.2:p.Glu1399AspfsTer10
NM_007298.3:c.1029del	NP_009229.2:p.Glu343AspfsTer9
NM_007299.3:c.1029del	NP_009230.2:p.Glu343AspfsTer9
NM_007300.3:c.4338del	NP_009231.2:p.Glu1446AspfsTer?
NR_027676.1:n.4474del
NM_007294.4:c.4338del MANE Select	NP_009225.1:p.Glu1446AspfsTer10
NM_007297.4:c.4197del	NP_009228.2:p.Glu1399AspfsTer10
NM_007299.4:c.1029del	NP_009230.2:p.Glu343AspfsTer9
NM_007300.4:c.4338del	NP_009231.2:p.Glu1446AspfsTer?
NR_027676.2:n.4515del