Canonical Allele Identifier: CA2499224781

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1172147
• ClinVar RCV Id: RCV001525797
• dbSNP Id: rs2144080858

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683742_61683743dup , CM000679.2:g.61683742_61683743dup	GRCh38
NC_000017.10:g.59761103_59761104dup , CM000679.1:g.59761103_59761104dup	GRCh37
NC_000017.9:g.57115885_57115886dup	NCBI36
NG_007409.2:g.184818_184819dup , LRG_300:g.184818_184819dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2044_2045dup
ENST00000682453.1:c.3304_3305dup	ENSP00000506943.1:p.Asp1102GlufsTer7
ENST00000682477.1:c.*2730_*2731dup	ENSP00000507075.1:n.*2730_*2731dup
ENST00000682589.1:n.9181_9182dup
ENST00000682755.1:c.3082_3083dup	ENSP00000507660.1:p.Asp1028GlufsTer7
ENST00000682989.1:c.*395_*396dup	ENSP00000507786.1:n.*395_*396dup
ENST00000683039.1:c.3304_3305dup	ENSP00000508303.1:p.Asp1102GlufsTer7
ENST00000683235.1:c.*719_*720dup	ENSP00000507646.1:n.*719_*720dup
ENST00000683535.1:n.1434_1435dup
ENST00000684584.1:c.2467_2468dup	ENSP00000508044.1:p.Asp823GlufsTer7
ENST00000684626.1:n.1550_1551dup
ENST00000684769.1:c.1494_1495dup	ENSP00000507691.1:n.1494_1495dup
ENST00000259008.7:c.3304_3305dup MANE Select	ENSP00000259008.2:p.Asp1102GlufsTer7
ENST00000259008.6:c.3304_3305dup	ENSP00000259008.2:p.Asp1102GlufsTer7
NM_032043.2:c.3304_3305dup , LRG_300t1:c.3304_3305dup	NP_114432.2:p.Asp1102GlufsTer7
XM_011525332.1:c.3364_3365dup	XP_011523634.1:p.Asp1122GlufsTer7
XM_011525333.1:c.3364_3365dup	XP_011523635.1:p.Asp1122GlufsTer7
XM_011525334.1:c.3364_3365dup	XP_011523636.1:p.Asp1122GlufsTer7
XM_011525335.1:c.3304_3305dup	XP_011523637.1:p.Asp1102GlufsTer7
XM_011525336.1:c.3244_3245dup	XP_011523638.1:p.Asp1082GlufsTer7
XM_011525337.1:c.3163_3164dup	XP_011523639.1:p.Asp1055GlufsTer7
XM_011525338.1:c.2881_2882dup	XP_011523640.1:p.Asp961GlufsTer7
XM_011525332.3:c.3364_3365dup	XP_011523634.1:p.Asp1122GlufsTer7
XM_011525333.3:c.3364_3365dup	XP_011523635.1:p.Asp1122GlufsTer7
XM_011525334.2:c.3364_3365dup	XP_011523636.1:p.Asp1122GlufsTer7
XM_011525335.3:c.3304_3305dup	XP_011523637.1:p.Asp1102GlufsTer7
XM_011525336.2:c.3244_3245dup	XP_011523638.1:p.Asp1082GlufsTer7
XM_011525337.2:c.3163_3164dup	XP_011523639.1:p.Asp1055GlufsTer7
XM_011525338.2:c.2881_2882dup	XP_011523640.1:p.Asp961GlufsTer7
XM_017025200.1:c.2821_2822dup	XP_016880689.1:p.Asp941GlufsTer7
XM_017025201.1:c.2821_2822dup	XP_016880690.1:p.Asp941GlufsTer7
XM_017025202.1:c.1450_1451dup	XP_016880691.1:p.Asp484GlufsTer7
XM_017025203.1:c.1450_1451dup	XP_016880692.1:p.Asp484GlufsTer7
NM_032043.3:c.3304_3305dup MANE Select	NP_114432.2:p.Asp1102GlufsTer7