Canonical Allele Identifier: CA16620519
Gene: BRIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 420764
dbSNP Id: rs1064794689

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61743062del , CM000679.2:g.61743062del GRCh38
NC_000017.10:g.59820423del , CM000679.1:g.59820423del GRCh37
NC_000017.9:g.57175205del NCBI36
NG_007409.2:g.125498del , LRG_300:g.125498del

Transcript Alleles

HGVS Amino-acid change
ENST00000584322.2:c.2330del ENSP00000463272.2:p.Arg777LeufsTer4
ENST00000682066.1:c.2460del ENSP00000507191.1:n.2460del
ENST00000682073.1:n.1070del
ENST00000682433.1:n.1409del
ENST00000682453.1:c.2330del ENSP00000506943.1:p.Arg777LeufsTer4
ENST00000682477.1:c.*1756del ENSP00000507075.1:n.*1756del
ENST00000682589.1:n.8207del
ENST00000682755.1:c.2108del ENSP00000507660.1:p.Arg703LeufsTer4
ENST00000682989.1:c.2330del ENSP00000507786.1:p.Arg777LeufsTer4
ENST00000683039.1:c.2330del ENSP00000508303.1:p.Arg777LeufsTer4
ENST00000683235.1:c.2330del ENSP00000507646.1:p.Arg777LeufsTer4
ENST00000683381.1:c.2390del ENSP00000508184.1:p.Arg797LeufsTer4
ENST00000683535.1:n.460del
ENST00000684471.1:n.743del
ENST00000684584.1:c.1823del ENSP00000508044.1:p.Arg608LeufsTer4
ENST00000684769.1:c.395del ENSP00000507691.1:p.Arg132LeufsTer4
ENST00000259008.7:c.2330del MANE Select ENSP00000259008.2:p.Arg777LeufsTer4
ENST00000259008.6:c.2330del ENSP00000259008.2:p.Arg777LeufsTer4
ENST00000577598.5:c.2330del ENSP00000464654.1:p.Arg777LeufsTer4
ENST00000584322.1:c.313del
NM_032043.2:c.2330del , LRG_300t1:c.2330del NP_114432.2:p.Arg777LeufsTer4
XM_011525332.1:c.2390del XP_011523634.1:p.Arg797LeufsTer4
XM_011525333.1:c.2390del XP_011523635.1:p.Arg797LeufsTer4
XM_011525334.1:c.2390del XP_011523636.1:p.Arg797LeufsTer4
XM_011525335.1:c.2330del XP_011523637.1:p.Arg777LeufsTer4
XM_011525336.1:c.2270del XP_011523638.1:p.Arg757LeufsTer4
XM_011525337.1:c.2189del XP_011523639.1:p.Arg730LeufsTer4
XM_011525338.1:c.1907del XP_011523640.1:p.Arg636LeufsTer4
XM_011525339.1:c.2390del XP_011523641.1:p.Arg797LeufsTer4
XM_011525340.1:c.2390del XP_011523642.1:p.Arg797LeufsTer4
XR_934894.1:n.524-1119del
XM_011525332.3:c.2390del XP_011523634.1:p.Arg797LeufsTer4
XM_011525333.3:c.2390del XP_011523635.1:p.Arg797LeufsTer4
XM_011525334.2:c.2390del XP_011523636.1:p.Arg797LeufsTer4
XM_011525335.3:c.2330del XP_011523637.1:p.Arg777LeufsTer4
XM_011525336.2:c.2270del XP_011523638.1:p.Arg757LeufsTer4
XM_011525337.2:c.2189del XP_011523639.1:p.Arg730LeufsTer4
XM_011525338.2:c.1907del XP_011523640.1:p.Arg636LeufsTer4
XM_011525339.3:c.2390del XP_011523641.1:p.Arg797LeufsTer4
XM_011525340.3:c.2390del XP_011523642.1:p.Arg797LeufsTer4
XM_017025200.1:c.1847del XP_016880689.1:p.Arg616LeufsTer4
XM_017025201.1:c.1847del XP_016880690.1:p.Arg616LeufsTer4
XM_017025202.1:c.476del XP_016880691.1:p.Arg159LeufsTer4
XM_017025203.1:c.476del XP_016880692.1:p.Arg159LeufsTer4
NM_032043.3:c.2330del MANE Select NP_114432.2:p.Arg777LeufsTer4