Canonical Allele Identifier: CA2830559092
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61684017_61684021del , CM000679.2:g.61684017_61684021del GRCh38
NC_000017.10:g.59761378_59761382del , CM000679.1:g.59761378_59761382del GRCh37
NC_000017.9:g.57116160_57116164del NCBI36
NG_007409.2:g.184540_184544del , LRG_300:g.184540_184544del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.1766_1770del
ENST00000682453.1:c.3026_3030del ENSP00000506943.1:p.Gly1009ValfsTer5
ENST00000682477.1:c.*2452_*2456del ENSP00000507075.1:n.*2452_*2456del
ENST00000682589.1:n.8903_8907del
ENST00000682755.1:c.2804_2808del ENSP00000507660.1:p.Gly935ValfsTer5
ENST00000682989.1:c.*117_*121del ENSP00000507786.1:n.*117_*121del
ENST00000683039.1:c.3026_3030del ENSP00000508303.1:p.Gly1009ValfsTer5
ENST00000683235.1:c.*441_*445del ENSP00000507646.1:n.*441_*445del
ENST00000683535.1:n.1156_1160del
ENST00000684584.1:c.2189_2193del ENSP00000508044.1:p.Gly730ValfsTer5
ENST00000684626.1:n.1272_1276del
ENST00000684769.1:c.1216_1220del ENSP00000507691.1:n.1216_1220del
ENST00000259008.7:c.3026_3030del MANE Select ENSP00000259008.2:p.Gly1009ValfsTer5
ENST00000259008.6:c.3026_3030del ENSP00000259008.2:p.Gly1009ValfsTer5
NM_032043.2:c.3026_3030del , LRG_300t1:c.3026_3030del NP_114432.2:p.Gly1009ValfsTer5
XM_011525332.1:c.3086_3090del XP_011523634.1:p.Gly1029ValfsTer5
XM_011525333.1:c.3086_3090del XP_011523635.1:p.Gly1029ValfsTer5
XM_011525334.1:c.3086_3090del XP_011523636.1:p.Gly1029ValfsTer5
XM_011525335.1:c.3026_3030del XP_011523637.1:p.Gly1009ValfsTer5
XM_011525336.1:c.2966_2970del XP_011523638.1:p.Gly989ValfsTer5
XM_011525337.1:c.2885_2889del XP_011523639.1:p.Gly962ValfsTer5
XM_011525338.1:c.2603_2607del XP_011523640.1:p.Gly868ValfsTer5
XM_011525332.3:c.3086_3090del XP_011523634.1:p.Gly1029ValfsTer5
XM_011525333.3:c.3086_3090del XP_011523635.1:p.Gly1029ValfsTer5
XM_011525334.2:c.3086_3090del XP_011523636.1:p.Gly1029ValfsTer5
XM_011525335.3:c.3026_3030del XP_011523637.1:p.Gly1009ValfsTer5
XM_011525336.2:c.2966_2970del XP_011523638.1:p.Gly989ValfsTer5
XM_011525337.2:c.2885_2889del XP_011523639.1:p.Gly962ValfsTer5
XM_011525338.2:c.2603_2607del XP_011523640.1:p.Gly868ValfsTer5
XM_017025200.1:c.2543_2547del XP_016880689.1:p.Gly848ValfsTer5
XM_017025201.1:c.2543_2547del XP_016880690.1:p.Gly848ValfsTer5
XM_017025202.1:c.1172_1176del XP_016880691.1:p.Gly391ValfsTer5
XM_017025203.1:c.1172_1176del XP_016880692.1:p.Gly391ValfsTer5
NM_032043.3:c.3026_3030del MANE Select NP_114432.2:p.Gly1009ValfsTer5