Canonical Allele Identifier: CA2740093829

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 2946040
• ClinVar RCV Id: RCV003806326

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683627dup , CM000679.2:g.61683627dup	GRCh38
NC_000017.10:g.59760988dup , CM000679.1:g.59760988dup	GRCh37
NC_000017.9:g.57115770dup	NCBI36
NG_007409.2:g.184934dup , LRG_300:g.184934dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2160dup
ENST00000682453.1:c.3420dup	ENSP00000506943.1:p.Asp1141ArgfsTer4
ENST00000682477.1:c.*2846dup	ENSP00000507075.1:n.*2846dup
ENST00000682589.1:n.9297dup
ENST00000682755.1:c.3198dup	ENSP00000507660.1:p.Asp1067ArgfsTer4
ENST00000682989.1:c.*511dup	ENSP00000507786.1:n.*511dup
ENST00000683039.1:c.3420dup	ENSP00000508303.1:p.Asp1141ArgfsTer4
ENST00000683235.1:c.*835dup	ENSP00000507646.1:n.*835dup
ENST00000683535.1:n.1550dup
ENST00000684584.1:c.2583dup	ENSP00000508044.1:p.Asp862ArgfsTer4
ENST00000684626.1:n.1666dup
ENST00000684769.1:c.1610dup	ENSP00000507691.1:n.1610dup
ENST00000259008.7:c.3420dup MANE Select	ENSP00000259008.2:p.Asp1141ArgfsTer4
ENST00000259008.6:c.3420dup	ENSP00000259008.2:p.Asp1141ArgfsTer4
NM_032043.2:c.3420dup , LRG_300t1:c.3420dup	NP_114432.2:p.Asp1141ArgfsTer4
XM_011525332.1:c.3480dup	XP_011523634.1:p.Asp1161ArgfsTer4
XM_011525333.1:c.3480dup	XP_011523635.1:p.Asp1161ArgfsTer4
XM_011525334.1:c.3480dup	XP_011523636.1:p.Asp1161ArgfsTer4
XM_011525335.1:c.3420dup	XP_011523637.1:p.Asp1141ArgfsTer4
XM_011525336.1:c.3360dup	XP_011523638.1:p.Asp1121ArgfsTer4
XM_011525337.1:c.3279dup	XP_011523639.1:p.Asp1094ArgfsTer4
XM_011525338.1:c.2997dup	XP_011523640.1:p.Asp1000ArgfsTer4
XM_011525332.3:c.3480dup	XP_011523634.1:p.Asp1161ArgfsTer4
XM_011525333.3:c.3480dup	XP_011523635.1:p.Asp1161ArgfsTer4
XM_011525334.2:c.3480dup	XP_011523636.1:p.Asp1161ArgfsTer4
XM_011525335.3:c.3420dup	XP_011523637.1:p.Asp1141ArgfsTer4
XM_011525336.2:c.3360dup	XP_011523638.1:p.Asp1121ArgfsTer4
XM_011525337.2:c.3279dup	XP_011523639.1:p.Asp1094ArgfsTer4
XM_011525338.2:c.2997dup	XP_011523640.1:p.Asp1000ArgfsTer4
XM_017025200.1:c.2937dup	XP_016880689.1:p.Asp980ArgfsTer4
XM_017025201.1:c.2937dup	XP_016880690.1:p.Asp980ArgfsTer4
XM_017025202.1:c.1566dup	XP_016880691.1:p.Asp523ArgfsTer4
XM_017025203.1:c.1566dup	XP_016880692.1:p.Asp523ArgfsTer4
NM_032043.3:c.3420dup MANE Select	NP_114432.2:p.Asp1141ArgfsTer4