Canonical Allele Identifier: CA985254128

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61685843del , CM000679.2:g.61685843del	GRCh38
NC_000017.10:g.59763204del , CM000679.1:g.59763204del	GRCh37
NC_000017.9:g.57117986del	NCBI36
NG_007409.2:g.182718del , LRG_300:g.182718del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682066.1:c.3029del	ENSP00000507191.1:n.3029del
ENST00000682073.1:n.1639del
ENST00000682433.1:n.1978del
ENST00000682453.1:c.2899del	ENSP00000506943.1:p.Glu967ArgfsTer18
ENST00000682477.1:c.*2325del	ENSP00000507075.1:n.*2325del
ENST00000682589.1:n.8776del
ENST00000682755.1:c.2677del	ENSP00000507660.1:p.Glu893ArgfsTer18
ENST00000682989.1:c.2610-1702del	ENSP00000507786.1:n.2610-1702del
ENST00000683039.1:c.2899del	ENSP00000508303.1:p.Glu967ArgfsTer18
ENST00000683235.1:c.*314del	ENSP00000507646.1:n.*314del
ENST00000683535.1:n.1029del
ENST00000684471.1:n.1312del
ENST00000684584.1:c.2069-1702del	ENSP00000508044.1:n.2069-1702del
ENST00000684626.1:n.1145del
ENST00000684769.1:c.1089del	ENSP00000507691.1:n.1089del
ENST00000259008.7:c.2899del MANE Select	ENSP00000259008.2:p.Glu967ArgfsTer18
ENST00000259008.6:c.2899del	ENSP00000259008.2:p.Glu967ArgfsTer18
ENST00000577598.5:c.2899del	ENSP00000464654.1:p.Glu967ArgfsTer4
NM_032043.2:c.2899del , LRG_300t1:c.2899del	NP_114432.2:p.Glu967ArgfsTer18
XM_011525332.1:c.2959del	XP_011523634.1:p.Glu987ArgfsTer18
XM_011525333.1:c.2959del	XP_011523635.1:p.Glu987ArgfsTer18
XM_011525334.1:c.2959del	XP_011523636.1:p.Glu987ArgfsTer18
XM_011525335.1:c.2899del	XP_011523637.1:p.Glu967ArgfsTer18
XM_011525336.1:c.2839del	XP_011523638.1:p.Glu947ArgfsTer18
XM_011525337.1:c.2758del	XP_011523639.1:p.Glu920ArgfsTer18
XM_011525338.1:c.2476del	XP_011523640.1:p.Glu826ArgfsTer18
XM_011525332.3:c.2959del	XP_011523634.1:p.Glu987ArgfsTer18
XM_011525333.3:c.2959del	XP_011523635.1:p.Glu987ArgfsTer18
XM_011525334.2:c.2959del	XP_011523636.1:p.Glu987ArgfsTer18
XM_011525335.3:c.2899del	XP_011523637.1:p.Glu967ArgfsTer18
XM_011525336.2:c.2839del	XP_011523638.1:p.Glu947ArgfsTer18
XM_011525337.2:c.2758del	XP_011523639.1:p.Glu920ArgfsTer18
XM_011525338.2:c.2476del	XP_011523640.1:p.Glu826ArgfsTer18
XM_017025200.1:c.2416del	XP_016880689.1:p.Glu806ArgfsTer18
XM_017025201.1:c.2416del	XP_016880690.1:p.Glu806ArgfsTer18
XM_017025202.1:c.1045del	XP_016880691.1:p.Glu349ArgfsTer18
XM_017025203.1:c.1045del	XP_016880692.1:p.Glu349ArgfsTer18
NM_032043.3:c.2899del MANE Select	NP_114432.2:p.Glu967ArgfsTer18