Canonical Allele Identifier: CA2733822658

Gene: BRIP1

Linked Data

• dbSNP Id: rs2144080279

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683729_61683730del , CM000679.2:g.61683729_61683730del	GRCh38
NC_000017.10:g.59761090_59761091del , CM000679.1:g.59761090_59761091del	GRCh37
NC_000017.9:g.57115872_57115873del	NCBI36
NG_007409.2:g.184833_184834del , LRG_300:g.184833_184834del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2059_2060del
ENST00000682453.1:c.3319_3320del	ENSP00000506943.1:p.Leu1107SerfsTer3
ENST00000682477.1:c.*2745_*2746del	ENSP00000507075.1:n.*2745_*2746del
ENST00000682589.1:n.9196_9197del
ENST00000682755.1:c.3097_3098del	ENSP00000507660.1:p.Leu1033SerfsTer3
ENST00000682989.1:c.*410_*411del	ENSP00000507786.1:n.*410_*411del
ENST00000683039.1:c.3319_3320del	ENSP00000508303.1:p.Leu1107SerfsTer3
ENST00000683235.1:c.*734_*735del	ENSP00000507646.1:n.*734_*735del
ENST00000683535.1:n.1449_1450del
ENST00000684584.1:c.2482_2483del	ENSP00000508044.1:p.Leu828SerfsTer3
ENST00000684626.1:n.1565_1566del
ENST00000684769.1:c.1509_1510del	ENSP00000507691.1:n.1509_1510del
ENST00000259008.7:c.3319_3320del MANE Select	ENSP00000259008.2:p.Leu1107SerfsTer3
ENST00000259008.6:c.3319_3320del	ENSP00000259008.2:p.Leu1107SerfsTer3
NM_032043.2:c.3319_3320del , LRG_300t1:c.3319_3320del	NP_114432.2:p.Leu1107SerfsTer3
XM_011525332.1:c.3379_3380del	XP_011523634.1:p.Leu1127SerfsTer3
XM_011525333.1:c.3379_3380del	XP_011523635.1:p.Leu1127SerfsTer3
XM_011525334.1:c.3379_3380del	XP_011523636.1:p.Leu1127SerfsTer3
XM_011525335.1:c.3319_3320del	XP_011523637.1:p.Leu1107SerfsTer3
XM_011525336.1:c.3259_3260del	XP_011523638.1:p.Leu1087SerfsTer3
XM_011525337.1:c.3178_3179del	XP_011523639.1:p.Leu1060SerfsTer3
XM_011525338.1:c.2896_2897del	XP_011523640.1:p.Leu966SerfsTer3
XM_011525332.3:c.3379_3380del	XP_011523634.1:p.Leu1127SerfsTer3
XM_011525333.3:c.3379_3380del	XP_011523635.1:p.Leu1127SerfsTer3
XM_011525334.2:c.3379_3380del	XP_011523636.1:p.Leu1127SerfsTer3
XM_011525335.3:c.3319_3320del	XP_011523637.1:p.Leu1107SerfsTer3
XM_011525336.2:c.3259_3260del	XP_011523638.1:p.Leu1087SerfsTer3
XM_011525337.2:c.3178_3179del	XP_011523639.1:p.Leu1060SerfsTer3
XM_011525338.2:c.2896_2897del	XP_011523640.1:p.Leu966SerfsTer3
XM_017025200.1:c.2836_2837del	XP_016880689.1:p.Leu946SerfsTer3
XM_017025201.1:c.2836_2837del	XP_016880690.1:p.Leu946SerfsTer3
XM_017025202.1:c.1465_1466del	XP_016880691.1:p.Leu489SerfsTer3
XM_017025203.1:c.1465_1466del	XP_016880692.1:p.Leu489SerfsTer3
NM_032043.3:c.3319_3320del MANE Select	NP_114432.2:p.Leu1107SerfsTer3