Canonical Allele Identifier: CA2580094558

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1941898
• ClinVar RCV Id: RCV002643366

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683635_61683636delinsGC , CM000679.2:g.61683635_61683636delinsGC	GRCh38
NC_000017.10:g.59760996_59760997delinsGC , CM000679.1:g.59760996_59760997delinsGC	GRCh37
NC_000017.9:g.57115778_57115779delinsGC	NCBI36
NG_007409.2:g.184924_184925delinsGC , LRG_300:g.184924_184925delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2150_2151delinsGC
ENST00000682453.1:c.3410_3411delinsGC	ENSP00000506943.1:p.Tyr1137Cys
ENST00000682477.1:c.*2836_*2837delinsGC	ENSP00000507075.1:n.*2836_*2837delinsGC
ENST00000682589.1:n.9287_9288delinsGC
ENST00000682755.1:c.3188_3189delinsGC	ENSP00000507660.1:p.Tyr1063Cys
ENST00000682989.1:c.*501_*502delinsGC	ENSP00000507786.1:n.*501_*502delinsGC
ENST00000683039.1:c.3410_3411delinsGC	ENSP00000508303.1:p.Tyr1137Cys
ENST00000683235.1:c.*825_*826delinsGC	ENSP00000507646.1:n.*825_*826delinsGC
ENST00000683535.1:n.1540_1541delinsGC
ENST00000684584.1:c.2573_2574delinsGC	ENSP00000508044.1:p.Tyr858Cys
ENST00000684626.1:n.1656_1657delinsGC
ENST00000684769.1:c.1600_1601delinsGC	ENSP00000507691.1:n.1600_1601delinsGC
ENST00000259008.7:c.3410_3411delinsGC MANE Select	ENSP00000259008.2:p.Tyr1137Cys
ENST00000259008.6:c.3410_3411delinsGC	ENSP00000259008.2:p.Tyr1137Cys
NM_032043.2:c.3410_3411delinsGC , LRG_300t1:c.3410_3411delinsGC	NP_114432.2:p.Tyr1137Cys
XM_011525332.1:c.3470_3471delinsGC	XP_011523634.1:p.Tyr1157Cys
XM_011525333.1:c.3470_3471delinsGC	XP_011523635.1:p.Tyr1157Cys
XM_011525334.1:c.3470_3471delinsGC	XP_011523636.1:p.Tyr1157Cys
XM_011525335.1:c.3410_3411delinsGC	XP_011523637.1:p.Tyr1137Cys
XM_011525336.1:c.3350_3351delinsGC	XP_011523638.1:p.Tyr1117Cys
XM_011525337.1:c.3269_3270delinsGC	XP_011523639.1:p.Tyr1090Cys
XM_011525338.1:c.2987_2988delinsGC	XP_011523640.1:p.Tyr996Cys
XM_011525332.3:c.3470_3471delinsGC	XP_011523634.1:p.Tyr1157Cys
XM_011525333.3:c.3470_3471delinsGC	XP_011523635.1:p.Tyr1157Cys
XM_011525334.2:c.3470_3471delinsGC	XP_011523636.1:p.Tyr1157Cys
XM_011525335.3:c.3410_3411delinsGC	XP_011523637.1:p.Tyr1137Cys
XM_011525336.2:c.3350_3351delinsGC	XP_011523638.1:p.Tyr1117Cys
XM_011525337.2:c.3269_3270delinsGC	XP_011523639.1:p.Tyr1090Cys
XM_011525338.2:c.2987_2988delinsGC	XP_011523640.1:p.Tyr996Cys
XM_017025200.1:c.2927_2928delinsGC	XP_016880689.1:p.Tyr976Cys
XM_017025201.1:c.2927_2928delinsGC	XP_016880690.1:p.Tyr976Cys
XM_017025202.1:c.1556_1557delinsGC	XP_016880691.1:p.Tyr519Cys
XM_017025203.1:c.1556_1557delinsGC	XP_016880692.1:p.Tyr519Cys
NM_032043.3:c.3410_3411delinsGC MANE Select	NP_114432.2:p.Tyr1137Cys