Canonical Allele Identifier: CA2582342198

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 2583338
• ClinVar RCV Id: RCV003337009

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61715953dup , CM000679.2:g.61715953dup	GRCh38
NC_000017.10:g.59793314dup , CM000679.1:g.59793314dup	GRCh37
NC_000017.9:g.57148096dup	NCBI36
NG_007409.2:g.152607dup , LRG_300:g.152607dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682066.1:c.2620dup	ENSP00000507191.1:n.2620dup
ENST00000682073.1:n.1230dup
ENST00000682433.1:n.1569dup
ENST00000682453.1:c.2490dup	ENSP00000506943.1:p.Arg831Ter
ENST00000682477.1:c.*1916dup	ENSP00000507075.1:n.*1916dup
ENST00000682589.1:n.8367dup
ENST00000682755.1:c.2268dup	ENSP00000507660.1:p.Arg757Ter
ENST00000682989.1:c.2490dup	ENSP00000507786.1:p.Arg831Ter
ENST00000683039.1:c.2490dup	ENSP00000508303.1:p.Arg831Ter
ENST00000683235.1:c.2490dup	ENSP00000507646.1:p.Arg831Ter
ENST00000683535.1:n.620dup
ENST00000684471.1:n.903dup
ENST00000684584.1:c.1983dup	ENSP00000508044.1:p.Arg662Ter
ENST00000684626.1:n.819dup
ENST00000684769.1:c.555dup	ENSP00000507691.1:p.Arg186Ter
ENST00000259008.7:c.2490dup MANE Select	ENSP00000259008.2:p.Arg831Ter
ENST00000259008.6:c.2490dup	ENSP00000259008.2:p.Arg831Ter
ENST00000577598.5:c.2490dup	ENSP00000464654.1:p.Arg831Ter
NM_032043.2:c.2490dup , LRG_300t1:c.2490dup	NP_114432.2:p.Arg831Ter
XM_011525332.1:c.2550dup	XP_011523634.1:p.Arg851Ter
XM_011525333.1:c.2550dup	XP_011523635.1:p.Arg851Ter
XM_011525334.1:c.2550dup	XP_011523636.1:p.Arg851Ter
XM_011525335.1:c.2490dup	XP_011523637.1:p.Arg831Ter
XM_011525336.1:c.2430dup	XP_011523638.1:p.Arg811Ter
XM_011525337.1:c.2349dup	XP_011523639.1:p.Arg784Ter
XM_011525338.1:c.2067dup	XP_011523640.1:p.Arg690Ter
XM_011525340.1:c.2550dup	XP_011523642.1:p.Arg851Ter
XM_011525332.3:c.2550dup	XP_011523634.1:p.Arg851Ter
XM_011525333.3:c.2550dup	XP_011523635.1:p.Arg851Ter
XM_011525334.2:c.2550dup	XP_011523636.1:p.Arg851Ter
XM_011525335.3:c.2490dup	XP_011523637.1:p.Arg831Ter
XM_011525336.2:c.2430dup	XP_011523638.1:p.Arg811Ter
XM_011525337.2:c.2349dup	XP_011523639.1:p.Arg784Ter
XM_011525338.2:c.2067dup	XP_011523640.1:p.Arg690Ter
XM_011525340.3:c.2550dup	XP_011523642.1:p.Arg851Ter
XM_017025200.1:c.2007dup	XP_016880689.1:p.Arg670Ter
XM_017025201.1:c.2007dup	XP_016880690.1:p.Arg670Ter
XM_017025202.1:c.636dup	XP_016880691.1:p.Arg213Ter
XM_017025203.1:c.636dup	XP_016880692.1:p.Arg213Ter
NM_032043.3:c.2490dup MANE Select	NP_114432.2:p.Arg831Ter