Canonical Allele Identifier: CA2499224774

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1049276
• ClinVar RCV Id: RCV001355199 ; RCV002456533
• dbSNP Id: rs2144077137

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683635_61683637delinsGTG , CM000679.2:g.61683635_61683637delinsGTG	GRCh38
NC_000017.10:g.59760996_59760998delinsGTG , CM000679.1:g.59760996_59760998delinsGTG	GRCh37
NC_000017.9:g.57115778_57115780delinsGTG	NCBI36
NG_007409.2:g.184923_184925delinsCAC , LRG_300:g.184923_184925delinsCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2149_2151delinsCAC
ENST00000682453.1:c.3409_3411delinsCAC	ENSP00000506943.1:p.Tyr1137His
ENST00000682477.1:c.*2835_*2837delinsCAC	ENSP00000507075.1:n.*2835_*2837delinsCAC
ENST00000682589.1:n.9286_9288delinsCAC
ENST00000682755.1:c.3187_3189delinsCAC	ENSP00000507660.1:p.Tyr1063His
ENST00000682989.1:c.*500_*502delinsCAC	ENSP00000507786.1:n.*500_*502delinsCAC
ENST00000683039.1:c.3409_3411delinsCAC	ENSP00000508303.1:p.Tyr1137His
ENST00000683235.1:c.*824_*826delinsCAC	ENSP00000507646.1:n.*824_*826delinsCAC
ENST00000683535.1:n.1539_1541delinsCAC
ENST00000684584.1:c.2572_2574delinsCAC	ENSP00000508044.1:p.Tyr858His
ENST00000684626.1:n.1655_1657delinsCAC
ENST00000684769.1:c.1599_1601delinsCAC	ENSP00000507691.1:n.1599_1601delinsCAC
ENST00000259008.7:c.3409_3411delinsCAC MANE Select	ENSP00000259008.2:p.Tyr1137His
ENST00000259008.6:c.3409_3411delinsCAC	ENSP00000259008.2:p.Tyr1137His
NM_032043.2:c.3409_3411delinsCAC , LRG_300t1:c.3409_3411delinsCAC	NP_114432.2:p.Tyr1137His
XM_011525332.1:c.3469_3471delinsCAC	XP_011523634.1:p.Tyr1157His
XM_011525333.1:c.3469_3471delinsCAC	XP_011523635.1:p.Tyr1157His
XM_011525334.1:c.3469_3471delinsCAC	XP_011523636.1:p.Tyr1157His
XM_011525335.1:c.3409_3411delinsCAC	XP_011523637.1:p.Tyr1137His
XM_011525336.1:c.3349_3351delinsCAC	XP_011523638.1:p.Tyr1117His
XM_011525337.1:c.3268_3270delinsCAC	XP_011523639.1:p.Tyr1090His
XM_011525338.1:c.2986_2988delinsCAC	XP_011523640.1:p.Tyr996His
XM_011525332.3:c.3469_3471delinsCAC	XP_011523634.1:p.Tyr1157His
XM_011525333.3:c.3469_3471delinsCAC	XP_011523635.1:p.Tyr1157His
XM_011525334.2:c.3469_3471delinsCAC	XP_011523636.1:p.Tyr1157His
XM_011525335.3:c.3409_3411delinsCAC	XP_011523637.1:p.Tyr1137His
XM_011525336.2:c.3349_3351delinsCAC	XP_011523638.1:p.Tyr1117His
XM_011525337.2:c.3268_3270delinsCAC	XP_011523639.1:p.Tyr1090His
XM_011525338.2:c.2986_2988delinsCAC	XP_011523640.1:p.Tyr996His
XM_017025200.1:c.2926_2928delinsCAC	XP_016880689.1:p.Tyr976His
XM_017025201.1:c.2926_2928delinsCAC	XP_016880690.1:p.Tyr976His
XM_017025202.1:c.1555_1557delinsCAC	XP_016880691.1:p.Tyr519His
XM_017025203.1:c.1555_1557delinsCAC	XP_016880692.1:p.Tyr519His
NM_032043.3:c.3409_3411delinsCAC MANE Select	NP_114432.2:p.Tyr1137His