Canonical Allele Identifier: CA2809539475

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082422_43082425del , CM000679.2:g.43082422_43082425del	GRCh38
NC_000017.10:g.41234439_41234442del , CM000679.1:g.41234439_41234442del	GRCh37
NC_000017.9:g.38487965_38487968del	NCBI36
NG_005905.2:g.135559_135562del , LRG_292:g.135559_135562del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4336_4339del	ENSP00000417241.2:p.Glu1446LysfsTer8
ENST00000470026.6:c.4336_4339del	ENSP00000419274.2:p.Glu1446LysfsTer9
ENST00000473961.6:c.4210_4213del	ENSP00000420201.2:p.Glu1404LysfsTer9
ENST00000476777.6:c.4330_4333del	ENSP00000417554.2:p.Glu1444LysfsTer9
ENST00000477152.6:c.4258_4261del	ENSP00000419988.2:p.Glu1420LysfsTer9
ENST00000478531.6:c.1024_1027del	ENSP00000420412.2:p.Glu342LysfsTer9
ENST00000489037.2:c.4258_4261del	ENSP00000420781.2:p.Glu1420LysfsTer9
ENST00000493919.6:c.886_889del	ENSP00000418819.2:p.Glu296LysfsTer9
ENST00000494123.6:c.4336_4339del	ENSP00000419103.2:p.Glu1446LysfsTer9
ENST00000497488.2:c.3448_3451del	ENSP00000418986.2:p.Glu1150LysfsTer9
ENST00000618469.2:c.4336_4339del	ENSP00000478114.2:p.Glu1446LysfsTer9
ENST00000634433.2:c.4213_4216del	ENSP00000489431.2:p.Glu1405LysfsTer9
ENST00000644379.2:c.4336_4339del	ENSP00000496570.2:p.Glu1446LysfsTer?
ENST00000644555.2:c.886_889del	ENSP00000494614.2:p.Glu296LysfsTer9
ENST00000652672.2:c.4195_4198del	ENSP00000498906.2:p.Glu1399LysfsTer9
ENST00000484087.6:c.901_904del	ENSP00000419481.2:p.Glu301LysfsTer8
ENST00000700182.1:c.946_949del	ENSP00000514849.1:p.Glu316LysfsTer8
ENST00000357654.9:c.4336_4339del MANE Select	ENSP00000350283.3:p.Glu1446LysfsTer9
ENST00000471181.7:c.4336_4339del	ENSP00000418960.2:p.Glu1446LysfsTer30
ENST00000644379.1:c.657_660del
ENST00000352993.7:c.910_913del	ENSP00000312236.5:p.Glu304LysfsTer9
ENST00000357654.7:c.4336_4339del	ENSP00000350283.3:p.Glu1446LysfsTer9
ENST00000461221.5:c.*4119_*4122del	ENSP00000418548.1:n.*4119_*4122del
ENST00000461574.1:c.630_633del
ENST00000468300.5:c.1027_1030del	ENSP00000417148.1:p.Glu343LysfsTer8
ENST00000471181.6:c.4336_4339del	ENSP00000418960.2:p.Glu1446LysfsTer30
ENST00000478531.5:c.1024_1027del	ENSP00000420412.1:p.Glu342LysfsTer9
ENST00000484087.5:c.649_652del	ENSP00000419481.1:p.Glu217LysfsTer9
ENST00000487825.5:c.652_655del	ENSP00000418212.1:p.Glu218LysfsTer9
ENST00000491747.6:c.1027_1030del	ENSP00000420705.2:p.Glu343LysfsTer8
ENST00000493795.5:c.4195_4198del	ENSP00000418775.1:p.Glu1399LysfsTer9
ENST00000493919.5:c.886_889del	ENSP00000418819.1:p.Glu296LysfsTer9
ENST00000586385.5:c.5-18474_5-18471del	ENSP00000465818.1:n.5-18474_5-18471del
ENST00000591534.5:c.-43-7904_-43-7901del	ENSP00000467329.1:n.-43-7904_-43-7901del
ENST00000591849.5:c.-98-32235_-98-32232del	ENSP00000465347.1:n.-98-32235_-98-32232del
ENST00000621897.1:n.230_233del
NM_007294.3:c.4336_4339del , LRG_292t1:c.4336_4339del	NP_009225.1:p.Glu1446LysfsTer9
NM_007297.3:c.4195_4198del	NP_009228.2:p.Glu1399LysfsTer9
NM_007298.3:c.1027_1030del	NP_009229.2:p.Glu343LysfsTer8
NM_007299.3:c.1027_1030del	NP_009230.2:p.Glu343LysfsTer8
NM_007300.3:c.4336_4339del	NP_009231.2:p.Glu1446LysfsTer30
NR_027676.1:n.4472_4475del
NM_007294.4:c.4336_4339del MANE Select	NP_009225.1:p.Glu1446LysfsTer9
NM_007297.4:c.4195_4198del	NP_009228.2:p.Glu1399LysfsTer9
NM_007299.4:c.1027_1030del	NP_009230.2:p.Glu343LysfsTer8
NM_007300.4:c.4336_4339del	NP_009231.2:p.Glu1446LysfsTer30
NR_027676.2:n.4513_4516del