Canonical Allele Identifier: CA2639153828

Gene: BRIP1

Linked Data

• gnomAD v4: 17-61683942-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683946del , CM000679.2:g.61683946del	GRCh38
NC_000017.10:g.59761307del , CM000679.1:g.59761307del	GRCh37
NC_000017.9:g.57116089del	NCBI36
NG_007409.2:g.184617del , LRG_300:g.184617del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1843del
ENST00000682453.1:c.3103del	ENSP00000506943.1:p.Arg1035ValfsTer24
ENST00000682477.1:c.*2529del	ENSP00000507075.1:n.*2529del
ENST00000682589.1:n.8980del
ENST00000682755.1:c.2881del	ENSP00000507660.1:p.Arg961ValfsTer24
ENST00000682989.1:c.*194del	ENSP00000507786.1:n.*194del
ENST00000683039.1:c.3103del	ENSP00000508303.1:p.Arg1035ValfsTer24
ENST00000683235.1:c.*518del	ENSP00000507646.1:n.*518del
ENST00000683535.1:n.1233del
ENST00000684584.1:c.2266del	ENSP00000508044.1:p.Arg756ValfsTer24
ENST00000684626.1:n.1349del
ENST00000684769.1:c.1293del	ENSP00000507691.1:n.1293del
ENST00000259008.7:c.3103del MANE Select	ENSP00000259008.2:p.Arg1035ValfsTer24
ENST00000259008.6:c.3103del	ENSP00000259008.2:p.Arg1035ValfsTer24
NM_032043.2:c.3103del , LRG_300t1:c.3103del	NP_114432.2:p.Arg1035ValfsTer24
XM_011525332.1:c.3163del	XP_011523634.1:p.Arg1055ValfsTer24
XM_011525333.1:c.3163del	XP_011523635.1:p.Arg1055ValfsTer24
XM_011525334.1:c.3163del	XP_011523636.1:p.Arg1055ValfsTer24
XM_011525335.1:c.3103del	XP_011523637.1:p.Arg1035ValfsTer24
XM_011525336.1:c.3043del	XP_011523638.1:p.Arg1015ValfsTer24
XM_011525337.1:c.2962del	XP_011523639.1:p.Arg988ValfsTer24
XM_011525338.1:c.2680del	XP_011523640.1:p.Arg894ValfsTer24
XM_011525332.3:c.3163del	XP_011523634.1:p.Arg1055ValfsTer24
XM_011525333.3:c.3163del	XP_011523635.1:p.Arg1055ValfsTer24
XM_011525334.2:c.3163del	XP_011523636.1:p.Arg1055ValfsTer24
XM_011525335.3:c.3103del	XP_011523637.1:p.Arg1035ValfsTer24
XM_011525336.2:c.3043del	XP_011523638.1:p.Arg1015ValfsTer24
XM_011525337.2:c.2962del	XP_011523639.1:p.Arg988ValfsTer24
XM_011525338.2:c.2680del	XP_011523640.1:p.Arg894ValfsTer24
XM_017025200.1:c.2620del	XP_016880689.1:p.Arg874ValfsTer24
XM_017025201.1:c.2620del	XP_016880690.1:p.Arg874ValfsTer24
XM_017025202.1:c.1249del	XP_016880691.1:p.Arg417ValfsTer24
XM_017025203.1:c.1249del	XP_016880692.1:p.Arg417ValfsTer24
NM_032043.3:c.3103del MANE Select	NP_114432.2:p.Arg1035ValfsTer24