Canonical Allele Identifier: CA915950684

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 641888
• ClinVar RCV Id: RCV000795233
• dbSNP Id: rs1603275121

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683641_61683642insCTG , CM000679.2:g.61683641_61683642insCTG	GRCh38
NC_000017.10:g.59761002_59761003insCTG , CM000679.1:g.59761002_59761003insCTG	GRCh37
NC_000017.9:g.57115784_57115785insCTG	NCBI36
NG_007409.2:g.184918_184919insCAG , LRG_300:g.184918_184919insCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2144_2145insCAG
ENST00000682453.1:c.3404_3405insCAG	ENSP00000506943.1:p.Glu1135delinsAspArg
ENST00000682477.1:c.*2830_*2831insCAG	ENSP00000507075.1:n.*2830_*2831insCAG
ENST00000682589.1:n.9281_9282insCAG
ENST00000682755.1:c.3182_3183insCAG	ENSP00000507660.1:p.Glu1061delinsAspArg
ENST00000682989.1:c.*495_*496insCAG	ENSP00000507786.1:n.*495_*496insCAG
ENST00000683039.1:c.3404_3405insCAG	ENSP00000508303.1:p.Glu1135delinsAspArg
ENST00000683235.1:c.*819_*820insCAG	ENSP00000507646.1:n.*819_*820insCAG
ENST00000683535.1:n.1534_1535insCAG
ENST00000684584.1:c.2567_2568insCAG	ENSP00000508044.1:p.Glu856delinsAspArg
ENST00000684626.1:n.1650_1651insCAG
ENST00000684769.1:c.1594_1595insCAG	ENSP00000507691.1:n.1594_1595insCAG
ENST00000259008.7:c.3404_3405insCAG MANE Select	ENSP00000259008.2:p.Glu1135delinsAspArg
ENST00000259008.6:c.3404_3405insCAG	ENSP00000259008.2:p.Glu1135delinsAspArg
NM_032043.2:c.3404_3405insCAG , LRG_300t1:c.3404_3405insCAG	NP_114432.2:p.Glu1135delinsAspArg
XM_011525332.1:c.3464_3465insCAG	XP_011523634.1:p.Glu1155delinsAspArg
XM_011525333.1:c.3464_3465insCAG	XP_011523635.1:p.Glu1155delinsAspArg
XM_011525334.1:c.3464_3465insCAG	XP_011523636.1:p.Glu1155delinsAspArg
XM_011525335.1:c.3404_3405insCAG	XP_011523637.1:p.Glu1135delinsAspArg
XM_011525336.1:c.3344_3345insCAG	XP_011523638.1:p.Glu1115delinsAspArg
XM_011525337.1:c.3263_3264insCAG	XP_011523639.1:p.Glu1088delinsAspArg
XM_011525338.1:c.2981_2982insCAG	XP_011523640.1:p.Glu994delinsAspArg
XM_011525332.3:c.3464_3465insCAG	XP_011523634.1:p.Glu1155delinsAspArg
XM_011525333.3:c.3464_3465insCAG	XP_011523635.1:p.Glu1155delinsAspArg
XM_011525334.2:c.3464_3465insCAG	XP_011523636.1:p.Glu1155delinsAspArg
XM_011525335.3:c.3404_3405insCAG	XP_011523637.1:p.Glu1135delinsAspArg
XM_011525336.2:c.3344_3345insCAG	XP_011523638.1:p.Glu1115delinsAspArg
XM_011525337.2:c.3263_3264insCAG	XP_011523639.1:p.Glu1088delinsAspArg
XM_011525338.2:c.2981_2982insCAG	XP_011523640.1:p.Glu994delinsAspArg
XM_017025200.1:c.2921_2922insCAG	XP_016880689.1:p.Glu974delinsAspArg
XM_017025201.1:c.2921_2922insCAG	XP_016880690.1:p.Glu974delinsAspArg
XM_017025202.1:c.1550_1551insCAG	XP_016880691.1:p.Glu517delinsAspArg
XM_017025203.1:c.1550_1551insCAG	XP_016880692.1:p.Glu517delinsAspArg
NM_032043.3:c.3404_3405insCAG MANE Select	NP_114432.2:p.Glu1135delinsAspArg