Canonical Allele Identifier: CA773769231
Gene: BRIP1 HGNC NCBI

Linked Data

dbSNP Id: rs1338352689

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683441del , CM000679.2:g.61683441del GRCh38
NC_000017.10:g.59760802del , CM000679.1:g.59760802del GRCh37
NC_000017.9:g.57115584del NCBI36
NG_007409.2:g.185120del , LRG_300:g.185120del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.2346del
ENST00000682453.1:c.3606del ENSP00000506943.1:p.Glu1203LysfsTer11
ENST00000682477.1:c.*3032del ENSP00000507075.1:n.*3032del
ENST00000682589.1:n.9483del
ENST00000682755.1:c.3384del ENSP00000507660.1:p.Glu1129LysfsTer11
ENST00000682989.1:c.*697del ENSP00000507786.1:n.*697del
ENST00000683039.1:c.3606del ENSP00000508303.1:p.Glu1203LysfsTer11
ENST00000683235.1:c.*1021del ENSP00000507646.1:n.*1021del
ENST00000683535.1:n.1736del
ENST00000684584.1:c.2769del ENSP00000508044.1:p.Glu924LysfsTer11
ENST00000684626.1:n.1852del
ENST00000684769.1:c.1796del ENSP00000507691.1:n.1796del
ENST00000259008.7:c.3606del MANE Select ENSP00000259008.2:p.Glu1203LysfsTer11
ENST00000259008.6:c.3606del ENSP00000259008.2:p.Glu1203LysfsTer11
NM_032043.2:c.3606del , LRG_300t1:c.3606del NP_114432.2:p.Glu1203LysfsTer11
XM_011525332.1:c.3666del XP_011523634.1:p.Glu1223LysfsTer11
XM_011525333.1:c.3666del XP_011523635.1:p.Glu1223LysfsTer11
XM_011525334.1:c.3666del XP_011523636.1:p.Glu1223LysfsTer11
XM_011525335.1:c.3606del XP_011523637.1:p.Glu1203LysfsTer11
XM_011525336.1:c.3546del XP_011523638.1:p.Glu1183LysfsTer11
XM_011525337.1:c.3465del XP_011523639.1:p.Glu1156LysfsTer11
XM_011525338.1:c.3183del XP_011523640.1:p.Glu1062LysfsTer11
XM_011525332.3:c.3666del XP_011523634.1:p.Glu1223LysfsTer11
XM_011525333.3:c.3666del XP_011523635.1:p.Glu1223LysfsTer11
XM_011525334.2:c.3666del XP_011523636.1:p.Glu1223LysfsTer11
XM_011525335.3:c.3606del XP_011523637.1:p.Glu1203LysfsTer11
XM_011525336.2:c.3546del XP_011523638.1:p.Glu1183LysfsTer11
XM_011525337.2:c.3465del XP_011523639.1:p.Glu1156LysfsTer11
XM_011525338.2:c.3183del XP_011523640.1:p.Glu1062LysfsTer11
XM_017025200.1:c.3123del XP_016880689.1:p.Glu1042LysfsTer11
XM_017025201.1:c.3123del XP_016880690.1:p.Glu1042LysfsTer11
XM_017025202.1:c.1752del XP_016880691.1:p.Glu585LysfsTer11
XM_017025203.1:c.1752del XP_016880692.1:p.Glu585LysfsTer11
NM_032043.3:c.3606del MANE Select NP_114432.2:p.Glu1203LysfsTer11