Canonical Allele Identifier: CA915950685

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 823656
• ClinVar RCV Id: RCV001020075 ; RCV001860971
• dbSNP Id: rs1603275179

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683690_61683691del , CM000679.2:g.61683690_61683691del	GRCh38
NC_000017.10:g.59761051_59761052del , CM000679.1:g.59761051_59761052del	GRCh37
NC_000017.9:g.57115833_57115834del	NCBI36
NG_007409.2:g.184872_184873del , LRG_300:g.184872_184873del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2098_2099del
ENST00000682453.1:c.3358_3359del	ENSP00000506943.1:p.Asp1120PhefsTer2
ENST00000682477.1:c.*2784_*2785del	ENSP00000507075.1:n.*2784_*2785del
ENST00000682589.1:n.9235_9236del
ENST00000682755.1:c.3136_3137del	ENSP00000507660.1:p.Asp1046PhefsTer2
ENST00000682989.1:c.*449_*450del	ENSP00000507786.1:n.*449_*450del
ENST00000683039.1:c.3358_3359del	ENSP00000508303.1:p.Asp1120PhefsTer2
ENST00000683235.1:c.*773_*774del	ENSP00000507646.1:n.*773_*774del
ENST00000683535.1:n.1488_1489del
ENST00000684584.1:c.2521_2522del	ENSP00000508044.1:p.Asp841PhefsTer2
ENST00000684626.1:n.1604_1605del
ENST00000684769.1:c.1548_1549del	ENSP00000507691.1:n.1548_1549del
ENST00000259008.7:c.3358_3359del MANE Select	ENSP00000259008.2:p.Asp1120PhefsTer2
ENST00000259008.6:c.3358_3359del	ENSP00000259008.2:p.Asp1120PhefsTer2
NM_032043.2:c.3358_3359del , LRG_300t1:c.3358_3359del	NP_114432.2:p.Asp1120PhefsTer2
XM_011525332.1:c.3418_3419del	XP_011523634.1:p.Asp1140PhefsTer2
XM_011525333.1:c.3418_3419del	XP_011523635.1:p.Asp1140PhefsTer2
XM_011525334.1:c.3418_3419del	XP_011523636.1:p.Asp1140PhefsTer2
XM_011525335.1:c.3358_3359del	XP_011523637.1:p.Asp1120PhefsTer2
XM_011525336.1:c.3298_3299del	XP_011523638.1:p.Asp1100PhefsTer2
XM_011525337.1:c.3217_3218del	XP_011523639.1:p.Asp1073PhefsTer2
XM_011525338.1:c.2935_2936del	XP_011523640.1:p.Asp979PhefsTer2
XM_011525332.3:c.3418_3419del	XP_011523634.1:p.Asp1140PhefsTer2
XM_011525333.3:c.3418_3419del	XP_011523635.1:p.Asp1140PhefsTer2
XM_011525334.2:c.3418_3419del	XP_011523636.1:p.Asp1140PhefsTer2
XM_011525335.3:c.3358_3359del	XP_011523637.1:p.Asp1120PhefsTer2
XM_011525336.2:c.3298_3299del	XP_011523638.1:p.Asp1100PhefsTer2
XM_011525337.2:c.3217_3218del	XP_011523639.1:p.Asp1073PhefsTer2
XM_011525338.2:c.2935_2936del	XP_011523640.1:p.Asp979PhefsTer2
XM_017025200.1:c.2875_2876del	XP_016880689.1:p.Asp959PhefsTer2
XM_017025201.1:c.2875_2876del	XP_016880690.1:p.Asp959PhefsTer2
XM_017025202.1:c.1504_1505del	XP_016880691.1:p.Asp502PhefsTer2
XM_017025203.1:c.1504_1505del	XP_016880692.1:p.Asp502PhefsTer2
NM_032043.3:c.3358_3359del MANE Select	NP_114432.2:p.Asp1120PhefsTer2