Canonical Allele Identifier: CA16620519
Gene: BRIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 420764
ClinVar RCV Id: RCV000477985
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
ENST00000259008.6:c.2330del ENSP00000259008.2:p.Arg777LeufsTer4
ENST00000577598.5:n.2330del ENSP00000464654.1:p.Arg777LeufsTer4
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
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