Canonical Allele Identifier: CA2639153825
Gene: BRIP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683776_61683784del , CM000679.2:g.61683776_61683784del GRCh38
NC_000017.10:g.59761137_59761145del , CM000679.1:g.59761137_59761145del GRCh37
NC_000017.9:g.57115919_57115927del NCBI36
NG_007409.2:g.184779_184787del , LRG_300:g.184779_184787del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.2005_2013del
ENST00000682453.1:c.3265_3273del ENSP00000506943.1:p.Ser1089_His1091del
ENST00000682477.1:c.*2691_*2699del ENSP00000507075.1:n.*2691_*2699del
ENST00000682589.1:n.9142_9150del
ENST00000682755.1:c.3043_3051del ENSP00000507660.1:p.Ser1015_His1017del
ENST00000682989.1:c.*356_*364del ENSP00000507786.1:n.*356_*364del
ENST00000683039.1:c.3265_3273del ENSP00000508303.1:p.Ser1089_His1091del
ENST00000683235.1:c.*680_*688del ENSP00000507646.1:n.*680_*688del
ENST00000683535.1:n.1395_1403del
ENST00000684584.1:c.2428_2436del ENSP00000508044.1:p.Ser810_His812del
ENST00000684626.1:n.1511_1519del
ENST00000684769.1:c.1455_1463del ENSP00000507691.1:n.1455_1463del
ENST00000259008.7:c.3265_3273del MANE Select ENSP00000259008.2:p.Ser1089_His1091del
ENST00000259008.6:c.3265_3273del ENSP00000259008.2:p.Ser1089_His1091del
NM_032043.2:c.3265_3273del , LRG_300t1:c.3265_3273del NP_114432.2:p.Ser1089_His1091del
XM_011525332.1:c.3325_3333del XP_011523634.1:p.Ser1109_His1111del
XM_011525333.1:c.3325_3333del XP_011523635.1:p.Ser1109_His1111del
XM_011525334.1:c.3325_3333del XP_011523636.1:p.Ser1109_His1111del
XM_011525335.1:c.3265_3273del XP_011523637.1:p.Ser1089_His1091del
XM_011525336.1:c.3205_3213del XP_011523638.1:p.Ser1069_His1071del
XM_011525337.1:c.3124_3132del XP_011523639.1:p.Ser1042_His1044del
XM_011525338.1:c.2842_2850del XP_011523640.1:p.Ser948_His950del
XM_011525332.3:c.3325_3333del XP_011523634.1:p.Ser1109_His1111del
XM_011525333.3:c.3325_3333del XP_011523635.1:p.Ser1109_His1111del
XM_011525334.2:c.3325_3333del XP_011523636.1:p.Ser1109_His1111del
XM_011525335.3:c.3265_3273del XP_011523637.1:p.Ser1089_His1091del
XM_011525336.2:c.3205_3213del XP_011523638.1:p.Ser1069_His1071del
XM_011525337.2:c.3124_3132del XP_011523639.1:p.Ser1042_His1044del
XM_011525338.2:c.2842_2850del XP_011523640.1:p.Ser948_His950del
XM_017025200.1:c.2782_2790del XP_016880689.1:p.Ser928_His930del
XM_017025201.1:c.2782_2790del XP_016880690.1:p.Ser928_His930del
XM_017025202.1:c.1411_1419del XP_016880691.1:p.Ser471_His473del
XM_017025203.1:c.1411_1419del XP_016880692.1:p.Ser471_His473del
NM_032043.3:c.3265_3273del MANE Select NP_114432.2:p.Ser1089_His1091del