Canonical Allele Identifier: CA2582342199

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 2583690
• ClinVar RCV Id: RCV003334612

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61715958_61715969delinsC , CM000679.2:g.61715958_61715969delinsC	GRCh38
NC_000017.10:g.59793319_59793330delinsC , CM000679.1:g.59793319_59793330delinsC	GRCh37
NC_000017.9:g.57148101_57148112delinsC	NCBI36
NG_007409.2:g.152591_152602delinsG , LRG_300:g.152591_152602delinsG

Transcript Alleles

HGVS	Amino-acid change
ENST00000682066.1:c.2604_2615delinsG	ENSP00000507191.1:n.2604_2615delinsG
ENST00000682073.1:n.1214_1225delinsG
ENST00000682433.1:n.1553_1564delinsG
ENST00000682453.1:c.2474_2485delinsG	ENSP00000506943.1:p.Leu825CysfsTer3
ENST00000682477.1:c.*1900_*1911delinsG	ENSP00000507075.1:n.*1900_*1911delinsG
ENST00000682589.1:n.8351_8362delinsG
ENST00000682755.1:c.2252_2263delinsG	ENSP00000507660.1:p.Leu751CysfsTer3
ENST00000682989.1:c.2474_2485delinsG	ENSP00000507786.1:p.Leu825CysfsTer3
ENST00000683039.1:c.2474_2485delinsG	ENSP00000508303.1:p.Leu825CysfsTer3
ENST00000683235.1:c.2474_2485delinsG	ENSP00000507646.1:p.Leu825CysfsTer3
ENST00000683535.1:n.604_615delinsG
ENST00000684471.1:n.887_898delinsG
ENST00000684584.1:c.1967_1978delinsG	ENSP00000508044.1:p.Leu656CysfsTer3
ENST00000684626.1:n.803_814delinsG
ENST00000684769.1:c.539_550delinsG	ENSP00000507691.1:p.Leu180CysfsTer3
ENST00000259008.7:c.2474_2485delinsG MANE Select	ENSP00000259008.2:p.Leu825CysfsTer3
ENST00000259008.6:c.2474_2485delinsG	ENSP00000259008.2:p.Leu825CysfsTer3
ENST00000577598.5:c.2474_2485delinsG	ENSP00000464654.1:p.Leu825CysfsTer3
NM_032043.2:c.2474_2485delinsG , LRG_300t1:c.2474_2485delinsG	NP_114432.2:p.Leu825CysfsTer3
XM_011525332.1:c.2534_2545delinsG	XP_011523634.1:p.Leu845CysfsTer3
XM_011525333.1:c.2534_2545delinsG	XP_011523635.1:p.Leu845CysfsTer3
XM_011525334.1:c.2534_2545delinsG	XP_011523636.1:p.Leu845CysfsTer3
XM_011525335.1:c.2474_2485delinsG	XP_011523637.1:p.Leu825CysfsTer3
XM_011525336.1:c.2414_2425delinsG	XP_011523638.1:p.Leu805CysfsTer3
XM_011525337.1:c.2333_2344delinsG	XP_011523639.1:p.Leu778CysfsTer3
XM_011525338.1:c.2051_2062delinsG	XP_011523640.1:p.Leu684CysfsTer3
XM_011525340.1:c.2534_2545delinsG	XP_011523642.1:p.Leu845CysfsTer3
XM_011525332.3:c.2534_2545delinsG	XP_011523634.1:p.Leu845CysfsTer3
XM_011525333.3:c.2534_2545delinsG	XP_011523635.1:p.Leu845CysfsTer3
XM_011525334.2:c.2534_2545delinsG	XP_011523636.1:p.Leu845CysfsTer3
XM_011525335.3:c.2474_2485delinsG	XP_011523637.1:p.Leu825CysfsTer3
XM_011525336.2:c.2414_2425delinsG	XP_011523638.1:p.Leu805CysfsTer3
XM_011525337.2:c.2333_2344delinsG	XP_011523639.1:p.Leu778CysfsTer3
XM_011525338.2:c.2051_2062delinsG	XP_011523640.1:p.Leu684CysfsTer3
XM_011525340.3:c.2534_2545delinsG	XP_011523642.1:p.Leu845CysfsTer3
XM_017025200.1:c.1991_2002delinsG	XP_016880689.1:p.Leu664CysfsTer3
XM_017025201.1:c.1991_2002delinsG	XP_016880690.1:p.Leu664CysfsTer3
XM_017025202.1:c.620_631delinsG	XP_016880691.1:p.Leu207CysfsTer3
XM_017025203.1:c.620_631delinsG	XP_016880692.1:p.Leu207CysfsTer3
NM_032043.3:c.2474_2485delinsG MANE Select	NP_114432.2:p.Leu825CysfsTer3