Canonical Allele Identifier: CA915950686

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 823454
• ClinVar RCV Id: RCV001019710 ; RCV001860956
• dbSNP Id: rs1603275271

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683758_61683760dup , CM000679.2:g.61683758_61683760dup	GRCh38
NC_000017.10:g.59761119_59761121dup , CM000679.1:g.59761119_59761121dup	GRCh37
NC_000017.9:g.57115901_57115903dup	NCBI36
NG_007409.2:g.184804_184806dup , LRG_300:g.184804_184806dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2030_2032dup
ENST00000682453.1:c.3290_3292dup	ENSP00000506943.1:p.Glu1097_Ala1098insGlu
ENST00000682477.1:c.*2716_*2718dup	ENSP00000507075.1:n.*2716_*2718dup
ENST00000682589.1:n.9167_9169dup
ENST00000682755.1:c.3068_3070dup	ENSP00000507660.1:p.Glu1023_Ala1024insGlu
ENST00000682989.1:c.*381_*383dup	ENSP00000507786.1:n.*381_*383dup
ENST00000683039.1:c.3290_3292dup	ENSP00000508303.1:p.Glu1097_Ala1098insGlu
ENST00000683235.1:c.*705_*707dup	ENSP00000507646.1:n.*705_*707dup
ENST00000683535.1:n.1420_1422dup
ENST00000684584.1:c.2453_2455dup	ENSP00000508044.1:p.Glu818_Ala819insGlu
ENST00000684626.1:n.1536_1538dup
ENST00000684769.1:c.1480_1482dup	ENSP00000507691.1:n.1480_1482dup
ENST00000259008.7:c.3290_3292dup MANE Select	ENSP00000259008.2:p.Glu1097_Ala1098insGlu
ENST00000259008.6:c.3290_3292dup	ENSP00000259008.2:p.Glu1097_Ala1098insGlu
NM_032043.2:c.3290_3292dup , LRG_300t1:c.3290_3292dup	NP_114432.2:p.Glu1097_Ala1098insGlu
XM_011525332.1:c.3350_3352dup	XP_011523634.1:p.Glu1117_Ala1118insGlu
XM_011525333.1:c.3350_3352dup	XP_011523635.1:p.Glu1117_Ala1118insGlu
XM_011525334.1:c.3350_3352dup	XP_011523636.1:p.Glu1117_Ala1118insGlu
XM_011525335.1:c.3290_3292dup	XP_011523637.1:p.Glu1097_Ala1098insGlu
XM_011525336.1:c.3230_3232dup	XP_011523638.1:p.Glu1077_Ala1078insGlu
XM_011525337.1:c.3149_3151dup	XP_011523639.1:p.Glu1050_Ala1051insGlu
XM_011525338.1:c.2867_2869dup	XP_011523640.1:p.Glu956_Ala957insGlu
XM_011525332.3:c.3350_3352dup	XP_011523634.1:p.Glu1117_Ala1118insGlu
XM_011525333.3:c.3350_3352dup	XP_011523635.1:p.Glu1117_Ala1118insGlu
XM_011525334.2:c.3350_3352dup	XP_011523636.1:p.Glu1117_Ala1118insGlu
XM_011525335.3:c.3290_3292dup	XP_011523637.1:p.Glu1097_Ala1098insGlu
XM_011525336.2:c.3230_3232dup	XP_011523638.1:p.Glu1077_Ala1078insGlu
XM_011525337.2:c.3149_3151dup	XP_011523639.1:p.Glu1050_Ala1051insGlu
XM_011525338.2:c.2867_2869dup	XP_011523640.1:p.Glu956_Ala957insGlu
XM_017025200.1:c.2807_2809dup	XP_016880689.1:p.Glu936_Ala937insGlu
XM_017025201.1:c.2807_2809dup	XP_016880690.1:p.Glu936_Ala937insGlu
XM_017025202.1:c.1436_1438dup	XP_016880691.1:p.Glu479_Ala480insGlu
XM_017025203.1:c.1436_1438dup	XP_016880692.1:p.Glu479_Ala480insGlu
NM_032043.3:c.3290_3292dup MANE Select	NP_114432.2:p.Glu1097_Ala1098insGlu