Canonical Allele Identifier: CA059033

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091495_43091496del , CM000679.2:g.43091495_43091496del	GRCh38
NC_000017.10:g.41243512_41243513del , CM000679.1:g.41243512_41243513del	GRCh37
NC_000017.9:g.38497038_38497039del	NCBI36
NG_005905.2:g.126489_126490del , LRG_292:g.126489_126490del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.4100_4101del
ENST00000461574.2:c.4036_4037del	ENSP00000417241.2:p.Glu1346LysfsTer9
ENST00000470026.6:c.4036_4037del	ENSP00000419274.2:p.Glu1346LysfsTer9
ENST00000473961.6:c.3910_3911del	ENSP00000420201.2:p.Glu1304LysfsTer9
ENST00000476777.6:c.4033_4034del	ENSP00000417554.2:p.Glu1345LysfsTer9
ENST00000477152.6:c.3958_3959del	ENSP00000419988.2:p.Glu1320LysfsTer9
ENST00000478531.6:c.785-463_785-462del	ENSP00000420412.2:n.785-463_785-462del
ENST00000489037.2:c.3958_3959del	ENSP00000420781.2:p.Glu1320LysfsTer9
ENST00000493919.6:c.647-463_647-462del	ENSP00000418819.2:n.647-463_647-462del
ENST00000494123.6:c.4036_4037del	ENSP00000419103.2:p.Glu1346LysfsTer9
ENST00000497488.2:c.3148_3149del	ENSP00000418986.2:p.Glu1050LysfsTer9
ENST00000618469.2:c.4036_4037del	ENSP00000478114.2:p.Glu1346LysfsTer9
ENST00000634433.2:c.3913_3914del	ENSP00000489431.2:p.Glu1305LysfsTer9
ENST00000644379.2:c.4036_4037del	ENSP00000496570.2:p.Glu1346LysfsTer9
ENST00000644555.2:c.647-463_647-462del	ENSP00000494614.2:n.647-463_647-462del
ENST00000652672.2:c.3895_3896del	ENSP00000498906.2:p.Glu1299LysfsTer9
ENST00000484087.6:c.665-463_665-462del	ENSP00000419481.2:n.665-463_665-462del
ENST00000700182.1:c.707-463_707-462del	ENSP00000514849.1:n.707-463_707-462del
ENST00000357654.9:c.4036_4037del MANE Select	ENSP00000350283.3:p.Glu1346LysfsTer9
ENST00000471181.7:c.4036_4037del	ENSP00000418960.2:p.Glu1346LysfsTer9
ENST00000644379.1:c.357_358del
ENST00000352993.7:c.671-463_671-462del	ENSP00000312236.5:n.671-463_671-462del
ENST00000354071.7:c.4036_4037del	ENSP00000326002.7:p.Glu1346LysfsTer9
ENST00000357654.7:c.4036_4037del	ENSP00000350283.3:p.Glu1346LysfsTer9
ENST00000461221.5:c.*3819_*3820del	ENSP00000418548.1:n.*3819_*3820del
ENST00000461574.1:c.330_331del
ENST00000468300.5:c.788-463_788-462del	ENSP00000417148.1:n.788-463_788-462del
ENST00000471181.6:c.4036_4037del	ENSP00000418960.2:p.Glu1346LysfsTer9
ENST00000478531.5:c.785-463_785-462del	ENSP00000420412.1:n.785-463_785-462del
ENST00000484087.5:c.410-463_410-462del	ENSP00000419481.1:n.410-463_410-462del
ENST00000487825.5:c.413-463_413-462del	ENSP00000418212.1:n.413-463_413-462del
ENST00000491747.6:c.788-463_788-462del	ENSP00000420705.2:n.788-463_788-462del
ENST00000493795.5:c.3895_3896del	ENSP00000418775.1:p.Glu1299LysfsTer9
ENST00000493919.5:c.647-463_647-462del	ENSP00000418819.1:n.647-463_647-462del
ENST00000586385.5:c.5-27544_5-27543del	ENSP00000465818.1:n.5-27544_5-27543del
ENST00000591534.5:c.-43-16974_-43-16973del	ENSP00000467329.1:n.-43-16974_-43-16973de...
ENST00000591849.5:c.-99+33776_-99+33777del	ENSP00000465347.1:n.-99+33776_-99+33777de...
NM_007294.3:c.4036_4037del , LRG_292t1:c.4036_4037del	NP_009225.1:p.Glu1346LysfsTer9
NM_007297.3:c.3895_3896del	NP_009228.2:p.Glu1299LysfsTer9
NM_007298.3:c.788-463_788-462del	NP_009229.2:n.788-463_788-462del
NM_007299.3:c.788-463_788-462del	NP_009230.2:n.788-463_788-462del
NM_007300.3:c.4036_4037del	NP_009231.2:p.Glu1346LysfsTer9
NR_027676.1:n.4172_4173del
NM_007294.4:c.4036_4037del MANE Select	NP_009225.1:p.Glu1346LysfsTer9
NM_007297.4:c.3895_3896del	NP_009228.2:p.Glu1299LysfsTer9
NM_007299.4:c.788-463_788-462del	NP_009230.2:n.788-463_788-462del
NM_007300.4:c.4036_4037del	NP_009231.2:p.Glu1346LysfsTer9
NR_027676.2:n.4213_4214del