Canonical Allele Identifier: CA2580094551

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1713220
• ClinVar RCV Id: RCV003156015

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683519dup , CM000679.2:g.61683519dup	GRCh38
NC_000017.10:g.59760880dup , CM000679.1:g.59760880dup	GRCh37
NC_000017.9:g.57115662dup	NCBI36
NG_007409.2:g.185041dup , LRG_300:g.185041dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2267dup
ENST00000682453.1:c.3527dup	ENSP00000506943.1:p.Glu1178ArgfsTer11
ENST00000682477.1:c.*2953dup	ENSP00000507075.1:n.*2953dup
ENST00000682589.1:n.9404dup
ENST00000682755.1:c.3305dup	ENSP00000507660.1:p.Glu1104ArgfsTer11
ENST00000682989.1:c.*618dup	ENSP00000507786.1:n.*618dup
ENST00000683039.1:c.3527dup	ENSP00000508303.1:p.Glu1178ArgfsTer11
ENST00000683235.1:c.*942dup	ENSP00000507646.1:n.*942dup
ENST00000683535.1:n.1657dup
ENST00000684584.1:c.2690dup	ENSP00000508044.1:p.Glu899ArgfsTer11
ENST00000684626.1:n.1773dup
ENST00000684769.1:c.1717dup	ENSP00000507691.1:n.1717dup
ENST00000259008.7:c.3527dup MANE Select	ENSP00000259008.2:p.Glu1178ArgfsTer11
ENST00000259008.6:c.3527dup	ENSP00000259008.2:p.Glu1178ArgfsTer11
NM_032043.2:c.3527dup , LRG_300t1:c.3527dup	NP_114432.2:p.Glu1178ArgfsTer11
XM_011525332.1:c.3587dup	XP_011523634.1:p.Glu1198ArgfsTer11
XM_011525333.1:c.3587dup	XP_011523635.1:p.Glu1198ArgfsTer11
XM_011525334.1:c.3587dup	XP_011523636.1:p.Glu1198ArgfsTer11
XM_011525335.1:c.3527dup	XP_011523637.1:p.Glu1178ArgfsTer11
XM_011525336.1:c.3467dup	XP_011523638.1:p.Glu1158ArgfsTer11
XM_011525337.1:c.3386dup	XP_011523639.1:p.Glu1131ArgfsTer11
XM_011525338.1:c.3104dup	XP_011523640.1:p.Glu1037ArgfsTer11
XM_011525332.3:c.3587dup	XP_011523634.1:p.Glu1198ArgfsTer11
XM_011525333.3:c.3587dup	XP_011523635.1:p.Glu1198ArgfsTer11
XM_011525334.2:c.3587dup	XP_011523636.1:p.Glu1198ArgfsTer11
XM_011525335.3:c.3527dup	XP_011523637.1:p.Glu1178ArgfsTer11
XM_011525336.2:c.3467dup	XP_011523638.1:p.Glu1158ArgfsTer11
XM_011525337.2:c.3386dup	XP_011523639.1:p.Glu1131ArgfsTer11
XM_011525338.2:c.3104dup	XP_011523640.1:p.Glu1037ArgfsTer11
XM_017025200.1:c.3044dup	XP_016880689.1:p.Glu1017ArgfsTer11
XM_017025201.1:c.3044dup	XP_016880690.1:p.Glu1017ArgfsTer11
XM_017025202.1:c.1673dup	XP_016880691.1:p.Glu560ArgfsTer11
XM_017025203.1:c.1673dup	XP_016880692.1:p.Glu560ArgfsTer11
NM_032043.3:c.3527dup MANE Select	NP_114432.2:p.Glu1178ArgfsTer11