Canonical Allele Identifier: CA2269130827

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683513_61683514delinsTC , CM000679.2:g.61683513_61683514delinsTC	GRCh38
NC_000017.10:g.59760874_59760875delinsTC , CM000679.1:g.59760874_59760875delinsTC	GRCh37
NC_000017.9:g.57115656_57115657delinsTC	NCBI36
NG_007409.2:g.185046_185047delinsGA , LRG_300:g.185046_185047delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2272_2273delinsGA
ENST00000682453.1:c.3532_3533delinsGA	ENSP00000506943.1:p.Glu1178=
ENST00000682477.1:c.*2958_*2959delinsGA	ENSP00000507075.1:n.*2958_*2959delinsGA
ENST00000682589.1:n.9409_9410delinsGA
ENST00000682755.1:c.3310_3311delinsGA	ENSP00000507660.1:p.Glu1104=
ENST00000682989.1:c.*623_*624delinsGA	ENSP00000507786.1:n.*623_*624delinsGA
ENST00000683039.1:c.3532_3533delinsGA	ENSP00000508303.1:p.Glu1178=
ENST00000683235.1:c.*947_*948delinsGA	ENSP00000507646.1:n.*947_*948delinsGA
ENST00000683535.1:n.1662_1663delinsGA
ENST00000684584.1:c.2695_2696delinsGA	ENSP00000508044.1:p.Glu899=
ENST00000684626.1:n.1778_1779delinsGA
ENST00000684769.1:c.1722_1723delinsGA	ENSP00000507691.1:n.1722_1723delinsGA
ENST00000259008.7:c.3532_3533delinsGA MANE Select	ENSP00000259008.2:p.Glu1178=
ENST00000259008.6:c.3532_3533delinsGA	ENSP00000259008.2:p.Glu1178=
NM_032043.2:c.3532_3533delinsGA , LRG_300t1:c.3532_3533delinsGA	NP_114432.2:p.Glu1178=
XM_011525332.1:c.3592_3593delinsGA	XP_011523634.1:p.Glu1198=
XM_011525333.1:c.3592_3593delinsGA	XP_011523635.1:p.Glu1198=
XM_011525334.1:c.3592_3593delinsGA	XP_011523636.1:p.Glu1198=
XM_011525335.1:c.3532_3533delinsGA	XP_011523637.1:p.Glu1178=
XM_011525336.1:c.3472_3473delinsGA	XP_011523638.1:p.Glu1158=
XM_011525337.1:c.3391_3392delinsGA	XP_011523639.1:p.Glu1131=
XM_011525338.1:c.3109_3110delinsGA	XP_011523640.1:p.Glu1037=
XM_011525332.3:c.3592_3593delinsGA	XP_011523634.1:p.Glu1198=
XM_011525333.3:c.3592_3593delinsGA	XP_011523635.1:p.Glu1198=
XM_011525334.2:c.3592_3593delinsGA	XP_011523636.1:p.Glu1198=
XM_011525335.3:c.3532_3533delinsGA	XP_011523637.1:p.Glu1178=
XM_011525336.2:c.3472_3473delinsGA	XP_011523638.1:p.Glu1158=
XM_011525337.2:c.3391_3392delinsGA	XP_011523639.1:p.Glu1131=
XM_011525338.2:c.3109_3110delinsGA	XP_011523640.1:p.Glu1037=
XM_017025200.1:c.3049_3050delinsGA	XP_016880689.1:p.Glu1017=
XM_017025201.1:c.3049_3050delinsGA	XP_016880690.1:p.Glu1017=
XM_017025202.1:c.1678_1679delinsGA	XP_016880691.1:p.Glu560=
XM_017025203.1:c.1678_1679delinsGA	XP_016880692.1:p.Glu560=
NM_032043.3:c.3532_3533delinsGA MANE Select	NP_114432.2:p.Glu1178=