Canonical Allele Identifier: CA2580094559

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1713219
• ClinVar RCV Id: RCV003097887 ; RCV003156014

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683653dup , CM000679.2:g.61683653dup	GRCh38
NC_000017.10:g.59761014dup , CM000679.1:g.59761014dup	GRCh37
NC_000017.9:g.57115796dup	NCBI36
NG_007409.2:g.184910dup , LRG_300:g.184910dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2136dup
ENST00000682453.1:c.3396dup	ENSP00000506943.1:p.Thr1133TyrfsTer3
ENST00000682477.1:c.*2822dup	ENSP00000507075.1:n.*2822dup
ENST00000682589.1:n.9273dup
ENST00000682755.1:c.3174dup	ENSP00000507660.1:p.Thr1059TyrfsTer3
ENST00000682989.1:c.*487dup	ENSP00000507786.1:n.*487dup
ENST00000683039.1:c.3396dup	ENSP00000508303.1:p.Thr1133TyrfsTer3
ENST00000683235.1:c.*811dup	ENSP00000507646.1:n.*811dup
ENST00000683535.1:n.1526dup
ENST00000684584.1:c.2559dup	ENSP00000508044.1:p.Thr854TyrfsTer3
ENST00000684626.1:n.1642dup
ENST00000684769.1:c.1586dup	ENSP00000507691.1:n.1586dup
ENST00000259008.7:c.3396dup MANE Select	ENSP00000259008.2:p.Thr1133TyrfsTer3
ENST00000259008.6:c.3396dup	ENSP00000259008.2:p.Thr1133TyrfsTer3
NM_032043.2:c.3396dup , LRG_300t1:c.3396dup	NP_114432.2:p.Thr1133TyrfsTer3
XM_011525332.1:c.3456dup	XP_011523634.1:p.Thr1153TyrfsTer3
XM_011525333.1:c.3456dup	XP_011523635.1:p.Thr1153TyrfsTer3
XM_011525334.1:c.3456dup	XP_011523636.1:p.Thr1153TyrfsTer3
XM_011525335.1:c.3396dup	XP_011523637.1:p.Thr1133TyrfsTer3
XM_011525336.1:c.3336dup	XP_011523638.1:p.Thr1113TyrfsTer3
XM_011525337.1:c.3255dup	XP_011523639.1:p.Thr1086TyrfsTer3
XM_011525338.1:c.2973dup	XP_011523640.1:p.Thr992TyrfsTer3
XM_011525332.3:c.3456dup	XP_011523634.1:p.Thr1153TyrfsTer3
XM_011525333.3:c.3456dup	XP_011523635.1:p.Thr1153TyrfsTer3
XM_011525334.2:c.3456dup	XP_011523636.1:p.Thr1153TyrfsTer3
XM_011525335.3:c.3396dup	XP_011523637.1:p.Thr1133TyrfsTer3
XM_011525336.2:c.3336dup	XP_011523638.1:p.Thr1113TyrfsTer3
XM_011525337.2:c.3255dup	XP_011523639.1:p.Thr1086TyrfsTer3
XM_011525338.2:c.2973dup	XP_011523640.1:p.Thr992TyrfsTer3
XM_017025200.1:c.2913dup	XP_016880689.1:p.Thr972TyrfsTer3
XM_017025201.1:c.2913dup	XP_016880690.1:p.Thr972TyrfsTer3
XM_017025202.1:c.1542dup	XP_016880691.1:p.Thr515TyrfsTer3
XM_017025203.1:c.1542dup	XP_016880692.1:p.Thr515TyrfsTer3
NM_032043.3:c.3396dup MANE Select	NP_114432.2:p.Thr1133TyrfsTer3