Canonical Allele Identifier: CA2269130821

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683507_61683510delinsTCTA , CM000679.2:g.61683507_61683510delinsTCTA	GRCh38
NC_000017.10:g.59760868_59760871delinsTCTA , CM000679.1:g.59760868_59760871delinsTCTA	GRCh37
NC_000017.9:g.57115650_57115653delinsTCTA	NCBI36
NG_007409.2:g.185050_185053delinsTAGA , LRG_300:g.185050_185053delinsTAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2276_2279delinsTAGA
ENST00000682453.1:c.3536_3539delinsTAGA	ENSP00000506943.1:p.Val1179=
ENST00000682477.1:c.*2962_*2965delinsTAGA	ENSP00000507075.1:n.*2962_*2965delinsTAGA
ENST00000682589.1:n.9413_9416delinsTAGA
ENST00000682755.1:c.3314_3317delinsTAGA	ENSP00000507660.1:p.Val1105=
ENST00000682989.1:c.*627_*630delinsTAGA	ENSP00000507786.1:n.*627_*630delinsTAGA
ENST00000683039.1:c.3536_3539delinsTAGA	ENSP00000508303.1:p.Val1179=
ENST00000683235.1:c.*951_*954delinsTAGA	ENSP00000507646.1:n.*951_*954delinsTAGA
ENST00000683535.1:n.1666_1669delinsTAGA
ENST00000684584.1:c.2699_2702delinsTAGA	ENSP00000508044.1:p.Val900=
ENST00000684626.1:n.1782_1785delinsTAGA
ENST00000684769.1:c.1726_1729delinsTAGA	ENSP00000507691.1:n.1726_1729delinsTAGA
ENST00000259008.7:c.3536_3539delinsTAGA MANE Select	ENSP00000259008.2:p.Val1179=
ENST00000259008.6:c.3536_3539delinsTAGA	ENSP00000259008.2:p.Val1179=
NM_032043.2:c.3536_3539delinsTAGA , LRG_300t1:c.3536_3539delinsTAGA	NP_114432.2:p.Val1179=
XM_011525332.1:c.3596_3599delinsTAGA	XP_011523634.1:p.Val1199=
XM_011525333.1:c.3596_3599delinsTAGA	XP_011523635.1:p.Val1199=
XM_011525334.1:c.3596_3599delinsTAGA	XP_011523636.1:p.Val1199=
XM_011525335.1:c.3536_3539delinsTAGA	XP_011523637.1:p.Val1179=
XM_011525336.1:c.3476_3479delinsTAGA	XP_011523638.1:p.Val1159=
XM_011525337.1:c.3395_3398delinsTAGA	XP_011523639.1:p.Val1132=
XM_011525338.1:c.3113_3116delinsTAGA	XP_011523640.1:p.Val1038=
XM_011525332.3:c.3596_3599delinsTAGA	XP_011523634.1:p.Val1199=
XM_011525333.3:c.3596_3599delinsTAGA	XP_011523635.1:p.Val1199=
XM_011525334.2:c.3596_3599delinsTAGA	XP_011523636.1:p.Val1199=
XM_011525335.3:c.3536_3539delinsTAGA	XP_011523637.1:p.Val1179=
XM_011525336.2:c.3476_3479delinsTAGA	XP_011523638.1:p.Val1159=
XM_011525337.2:c.3395_3398delinsTAGA	XP_011523639.1:p.Val1132=
XM_011525338.2:c.3113_3116delinsTAGA	XP_011523640.1:p.Val1038=
XM_017025200.1:c.3053_3056delinsTAGA	XP_016880689.1:p.Val1018=
XM_017025201.1:c.3053_3056delinsTAGA	XP_016880690.1:p.Val1018=
XM_017025202.1:c.1682_1685delinsTAGA	XP_016880691.1:p.Val561=
XM_017025203.1:c.1682_1685delinsTAGA	XP_016880692.1:p.Val561=
NM_032043.3:c.3536_3539delinsTAGA MANE Select	NP_114432.2:p.Val1179=