Canonical Allele Identifier: CA2580094495

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 2007059
• ClinVar RCV Id: RCV002812031

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61847192_61847202del , CM000679.2:g.61847192_61847202del	GRCh38
NC_000017.10:g.59924553_59924563del , CM000679.1:g.59924553_59924563del	GRCh37
NC_000017.9:g.57279335_57279345del	NCBI36
NG_007409.2:g.21358_21368del , LRG_300:g.21358_21368del

Transcript Alleles

HGVS	Amino-acid change
ENST00000577913.2:c.526_536del	ENSP00000462274.2:p.Phe176SerfsTer9
ENST00000579028.2:c.19_29del	ENSP00000463827.2:p.Phe7SerfsTer9
ENST00000584322.2:c.526_536del	ENSP00000463272.2:p.Phe176SerfsTer9
ENST00000682066.1:c.19_29del	ENSP00000507191.1:p.Phe7SerfsTer9
ENST00000682369.1:c.526_536del	ENSP00000507450.1:p.Phe176SerfsTer9
ENST00000682453.1:c.526_536del	ENSP00000506943.1:p.Phe176SerfsTer9
ENST00000682477.1:c.526_536del	ENSP00000507075.1:p.Phe176SerfsTer9
ENST00000682589.1:n.2267_2277del
ENST00000682611.1:c.19_29del	ENSP00000508326.1:p.Phe7SerfsTer9
ENST00000682755.1:c.526_536del	ENSP00000507660.1:p.Phe176SerfsTer9
ENST00000682989.1:c.526_536del	ENSP00000507786.1:p.Phe176SerfsTer9
ENST00000683039.1:c.526_536del	ENSP00000508303.1:p.Phe176SerfsTer9
ENST00000683235.1:c.526_536del	ENSP00000507646.1:p.Phe176SerfsTer9
ENST00000683381.1:c.526_536del	ENSP00000508184.1:p.Phe176SerfsTer9
ENST00000683672.1:c.*14_*24del	ENSP00000506781.1:n.*14_*24del
ENST00000683692.1:c.19_29del	ENSP00000507964.1:p.Phe7SerfsTer9
ENST00000684584.1:c.19_29del	ENSP00000508044.1:p.Phe7SerfsTer9
ENST00000259008.7:c.526_536del MANE Select	ENSP00000259008.2:p.Phe176SerfsTer9
ENST00000259008.6:c.526_536del	ENSP00000259008.2:p.Phe176SerfsTer9
ENST00000577598.5:c.526_536del	ENSP00000464654.1:p.Phe176SerfsTer9
NM_032043.2:c.526_536del , LRG_300t1:c.526_536del	NP_114432.2:p.Phe176SerfsTer9
XM_011525332.1:c.526_536del	XP_011523634.1:p.Phe176SerfsTer9
XM_011525333.1:c.526_536del	XP_011523635.1:p.Phe176SerfsTer9
XM_011525334.1:c.526_536del	XP_011523636.1:p.Phe176SerfsTer9
XM_011525335.1:c.526_536del	XP_011523637.1:p.Phe176SerfsTer9
XM_011525336.1:c.526_536del	XP_011523638.1:p.Phe176SerfsTer9
XM_011525337.1:c.526_536del	XP_011523639.1:p.Phe176SerfsTer9
XM_011525338.1:c.43_53del	XP_011523640.1:p.Phe15SerfsTer9
XM_011525339.1:c.526_536del	XP_011523641.1:p.Phe176SerfsTer9
XM_011525340.1:c.526_536del	XP_011523642.1:p.Phe176SerfsTer9
XM_011525341.1:c.526_536del	XP_011523643.1:p.Phe176SerfsTer9
XM_011525332.3:c.526_536del	XP_011523634.1:p.Phe176SerfsTer9
XM_011525333.3:c.526_536del	XP_011523635.1:p.Phe176SerfsTer9
XM_011525334.2:c.526_536del	XP_011523636.1:p.Phe176SerfsTer9
XM_011525335.3:c.526_536del	XP_011523637.1:p.Phe176SerfsTer9
XM_011525336.2:c.526_536del	XP_011523638.1:p.Phe176SerfsTer9
XM_011525337.2:c.526_536del	XP_011523639.1:p.Phe176SerfsTer9
XM_011525338.2:c.43_53del	XP_011523640.1:p.Phe15SerfsTer9
XM_011525339.3:c.526_536del	XP_011523641.1:p.Phe176SerfsTer9
XM_011525340.3:c.526_536del	XP_011523642.1:p.Phe176SerfsTer9
XM_011525341.3:c.526_536del	XP_011523643.1:p.Phe176SerfsTer9
XM_017025200.1:c.43_53del	XP_016880689.1:p.Phe15SerfsTer9
NM_032043.3:c.526_536del MANE Select	NP_114432.2:p.Phe176SerfsTer9