Canonical Allele Identifier: CA2269131868

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61685907_61685908delinsTC , CM000679.2:g.61685907_61685908delinsTC	GRCh38
NC_000017.10:g.59763268_59763269delinsTC , CM000679.1:g.59763268_59763269delinsTC	GRCh37
NC_000017.9:g.57118050_57118051delinsTC	NCBI36
NG_007409.2:g.182652_182653delinsGA , LRG_300:g.182652_182653delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000682066.1:c.2963_2964delinsGA	ENSP00000507191.1:n.2963_2964delinsGA
ENST00000682073.1:n.1573_1574delinsGA
ENST00000682433.1:n.1912_1913delinsGA
ENST00000682453.1:c.2833_2834delinsGA	ENSP00000506943.1:p.Glu945=
ENST00000682477.1:c.*2259_*2260delinsGA	ENSP00000507075.1:n.*2259_*2260delinsGA
ENST00000682589.1:n.8710_8711delinsGA
ENST00000682755.1:c.2611_2612delinsGA	ENSP00000507660.1:p.Glu871=
ENST00000682989.1:c.2610-1768_2610-1767delinsGA	ENSP00000507786.1:n.2610-1768_2610-1767delinsGA
ENST00000683039.1:c.2833_2834delinsGA	ENSP00000508303.1:p.Glu945=
ENST00000683235.1:c.*248_*249delinsGA	ENSP00000507646.1:n.*248_*249delinsGA
ENST00000683535.1:n.963_964delinsGA
ENST00000684471.1:n.1246_1247delinsGA
ENST00000684584.1:c.2069-1768_2069-1767delinsGA	ENSP00000508044.1:n.2069-1768_2069-1767delinsGA
ENST00000684626.1:n.1079_1080delinsGA
ENST00000684769.1:c.1023_1024delinsGA	ENSP00000507691.1:n.1023_1024delinsGA
ENST00000259008.7:c.2833_2834delinsGA MANE Select	ENSP00000259008.2:p.Glu945=
ENST00000259008.6:c.2833_2834delinsGA	ENSP00000259008.2:p.Glu945=
ENST00000577598.5:c.2833_2834delinsGA	ENSP00000464654.1:p.Glu945=
NM_032043.2:c.2833_2834delinsGA , LRG_300t1:c.2833_2834delinsGA	NP_114432.2:p.Glu945=
XM_011525332.1:c.2893_2894delinsGA	XP_011523634.1:p.Glu965=
XM_011525333.1:c.2893_2894delinsGA	XP_011523635.1:p.Glu965=
XM_011525334.1:c.2893_2894delinsGA	XP_011523636.1:p.Glu965=
XM_011525335.1:c.2833_2834delinsGA	XP_011523637.1:p.Glu945=
XM_011525336.1:c.2773_2774delinsGA	XP_011523638.1:p.Glu925=
XM_011525337.1:c.2692_2693delinsGA	XP_011523639.1:p.Glu898=
XM_011525338.1:c.2410_2411delinsGA	XP_011523640.1:p.Glu804=
XM_011525332.3:c.2893_2894delinsGA	XP_011523634.1:p.Glu965=
XM_011525333.3:c.2893_2894delinsGA	XP_011523635.1:p.Glu965=
XM_011525334.2:c.2893_2894delinsGA	XP_011523636.1:p.Glu965=
XM_011525335.3:c.2833_2834delinsGA	XP_011523637.1:p.Glu945=
XM_011525336.2:c.2773_2774delinsGA	XP_011523638.1:p.Glu925=
XM_011525337.2:c.2692_2693delinsGA	XP_011523639.1:p.Glu898=
XM_011525338.2:c.2410_2411delinsGA	XP_011523640.1:p.Glu804=
XM_017025200.1:c.2350_2351delinsGA	XP_016880689.1:p.Glu784=
XM_017025201.1:c.2350_2351delinsGA	XP_016880690.1:p.Glu784=
XM_017025202.1:c.979_980delinsGA	XP_016880691.1:p.Glu327=
XM_017025203.1:c.979_980delinsGA	XP_016880692.1:p.Glu327=
NM_032043.3:c.2833_2834delinsGA MANE Select	NP_114432.2:p.Glu945=