Canonical Allele Identifier: CA915950711

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 818629
• ClinVar RCV Id: RCV001010396 ; RCV001390858 ; RCV003336229
• dbSNP Id: rs1603342258
• gnomAD v4: 17-61799217-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61799219dup , CM000679.2:g.61799219dup	GRCh38
NC_000017.10:g.59876580dup , CM000679.1:g.59876580dup	GRCh37
NC_000017.9:g.57231362dup	NCBI36
NG_007409.2:g.69342dup , LRG_300:g.69342dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000579028.2:c.715dup	ENSP00000463827.2:p.Tyr239LeufsTer14
ENST00000584322.2:c.1222dup	ENSP00000463272.2:p.Tyr408LeufsTer14
ENST00000682066.1:c.715dup	ENSP00000507191.1:p.Tyr239LeufsTer14
ENST00000682453.1:c.1222dup	ENSP00000506943.1:p.Tyr408LeufsTer14
ENST00000682477.1:c.1222dup	ENSP00000507075.1:p.Tyr408LeufsTer14
ENST00000682589.1:n.2963dup
ENST00000682611.1:c.715dup	ENSP00000508326.1:p.Tyr239LeufsTer14
ENST00000682755.1:c.1000dup	ENSP00000507660.1:p.Tyr334LeufsTer14
ENST00000682989.1:c.1222dup	ENSP00000507786.1:p.Tyr408LeufsTer14
ENST00000683039.1:c.1222dup	ENSP00000508303.1:p.Tyr408LeufsTer14
ENST00000683235.1:c.1222dup	ENSP00000507646.1:p.Tyr408LeufsTer14
ENST00000683381.1:c.1222dup	ENSP00000508184.1:p.Tyr408LeufsTer14
ENST00000683692.1:c.800dup	ENSP00000507964.1:n.800dup
ENST00000684584.1:c.715dup	ENSP00000508044.1:p.Tyr239LeufsTer14
ENST00000259008.7:c.1222dup MANE Select	ENSP00000259008.2:p.Tyr408LeufsTer14
ENST00000259008.6:c.1222dup	ENSP00000259008.2:p.Tyr408LeufsTer14
ENST00000577598.5:c.1222dup	ENSP00000464654.1:p.Tyr408LeufsTer14
NM_032043.2:c.1222dup , LRG_300t1:c.1222dup	NP_114432.2:p.Tyr408LeufsTer14
XM_011525332.1:c.1222dup	XP_011523634.1:p.Tyr408LeufsTer14
XM_011525333.1:c.1222dup	XP_011523635.1:p.Tyr408LeufsTer14
XM_011525334.1:c.1222dup	XP_011523636.1:p.Tyr408LeufsTer14
XM_011525335.1:c.1222dup	XP_011523637.1:p.Tyr408LeufsTer14
XM_011525336.1:c.1222dup	XP_011523638.1:p.Tyr408LeufsTer14
XM_011525337.1:c.1222dup	XP_011523639.1:p.Tyr408LeufsTer14
XM_011525338.1:c.739dup	XP_011523640.1:p.Tyr247LeufsTer14
XM_011525339.1:c.1222dup	XP_011523641.1:p.Tyr408LeufsTer14
XM_011525340.1:c.1222dup	XP_011523642.1:p.Tyr408LeufsTer14
XM_011525341.1:c.1222dup	XP_011523643.1:p.Tyr408LeufsTer14
XM_011525332.3:c.1222dup	XP_011523634.1:p.Tyr408LeufsTer14
XM_011525333.3:c.1222dup	XP_011523635.1:p.Tyr408LeufsTer14
XM_011525334.2:c.1222dup	XP_011523636.1:p.Tyr408LeufsTer14
XM_011525335.3:c.1222dup	XP_011523637.1:p.Tyr408LeufsTer14
XM_011525336.2:c.1222dup	XP_011523638.1:p.Tyr408LeufsTer14
XM_011525337.2:c.1222dup	XP_011523639.1:p.Tyr408LeufsTer14
XM_011525338.2:c.739dup	XP_011523640.1:p.Tyr247LeufsTer14
XM_011525339.3:c.1222dup	XP_011523641.1:p.Tyr408LeufsTer14
XM_011525340.3:c.1222dup	XP_011523642.1:p.Tyr408LeufsTer14
XM_011525341.3:c.1222dup	XP_011523643.1:p.Tyr408LeufsTer14
XM_017025200.1:c.739dup	XP_016880689.1:p.Tyr247LeufsTer14
XM_017025201.1:c.679dup	XP_016880690.1:p.Tyr227LeufsTer14
NM_032043.3:c.1222dup MANE Select	NP_114432.2:p.Tyr408LeufsTer14