Canonical Allele Identifier: CA2582342208

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 2583749
• ClinVar RCV Id: RCV003334671

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61743056_61743059dup , CM000679.2:g.61743056_61743059dup	GRCh38
NC_000017.10:g.59820417_59820420dup , CM000679.1:g.59820417_59820420dup	GRCh37
NC_000017.9:g.57175199_57175202dup	NCBI36
NG_007409.2:g.125502_125505dup , LRG_300:g.125502_125505dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584322.2:c.2334_2337dup	ENSP00000463272.2:p.Ile780CysfsTer22
ENST00000682066.1:c.2464_2467dup	ENSP00000507191.1:n.2464_2467dup
ENST00000682073.1:n.1074_1077dup
ENST00000682433.1:n.1413_1416dup
ENST00000682453.1:c.2334_2337dup	ENSP00000506943.1:p.Ile780CysfsTer17
ENST00000682477.1:c.*1760_*1763dup	ENSP00000507075.1:n.*1760_*1763dup
ENST00000682589.1:n.8211_8214dup
ENST00000682755.1:c.2112_2115dup	ENSP00000507660.1:p.Ile706CysfsTer17
ENST00000682989.1:c.2334_2337dup	ENSP00000507786.1:p.Ile780CysfsTer17
ENST00000683039.1:c.2334_2337dup	ENSP00000508303.1:p.Ile780CysfsTer17
ENST00000683235.1:c.2334_2337dup	ENSP00000507646.1:p.Ile780CysfsTer17
ENST00000683381.1:c.2394_2397dup	ENSP00000508184.1:p.Ile800CysfsTer22
ENST00000683535.1:n.464_467dup
ENST00000684471.1:n.747_750dup
ENST00000684584.1:c.1827_1830dup	ENSP00000508044.1:p.Ile611CysfsTer17
ENST00000684769.1:c.399_402dup	ENSP00000507691.1:p.Ile135CysfsTer17
ENST00000259008.7:c.2334_2337dup MANE Select	ENSP00000259008.2:p.Ile780CysfsTer17
ENST00000259008.6:c.2334_2337dup	ENSP00000259008.2:p.Ile780CysfsTer17
ENST00000577598.5:c.2334_2337dup	ENSP00000464654.1:p.Ile780CysfsTer17
ENST00000584322.1:c.317_320dup
NM_032043.2:c.2334_2337dup , LRG_300t1:c.2334_2337dup	NP_114432.2:p.Ile780CysfsTer17
XM_011525332.1:c.2394_2397dup	XP_011523634.1:p.Ile800CysfsTer17
XM_011525333.1:c.2394_2397dup	XP_011523635.1:p.Ile800CysfsTer17
XM_011525334.1:c.2394_2397dup	XP_011523636.1:p.Ile800CysfsTer17
XM_011525335.1:c.2334_2337dup	XP_011523637.1:p.Ile780CysfsTer17
XM_011525336.1:c.2274_2277dup	XP_011523638.1:p.Ile760CysfsTer17
XM_011525337.1:c.2193_2196dup	XP_011523639.1:p.Ile733CysfsTer17
XM_011525338.1:c.1911_1914dup	XP_011523640.1:p.Ile639CysfsTer17
XM_011525339.1:c.2394_2397dup	XP_011523641.1:p.Ile800CysfsTer22
XM_011525340.1:c.2394_2397dup	XP_011523642.1:p.Ile800CysfsTer17
XR_934894.1:n.524-1125_524-1122dup
XM_011525332.3:c.2394_2397dup	XP_011523634.1:p.Ile800CysfsTer17
XM_011525333.3:c.2394_2397dup	XP_011523635.1:p.Ile800CysfsTer17
XM_011525334.2:c.2394_2397dup	XP_011523636.1:p.Ile800CysfsTer17
XM_011525335.3:c.2334_2337dup	XP_011523637.1:p.Ile780CysfsTer17
XM_011525336.2:c.2274_2277dup	XP_011523638.1:p.Ile760CysfsTer17
XM_011525337.2:c.2193_2196dup	XP_011523639.1:p.Ile733CysfsTer17
XM_011525338.2:c.1911_1914dup	XP_011523640.1:p.Ile639CysfsTer17
XM_011525339.3:c.2394_2397dup	XP_011523641.1:p.Ile800CysfsTer22
XM_011525340.3:c.2394_2397dup	XP_011523642.1:p.Ile800CysfsTer17
XM_017025200.1:c.1851_1854dup	XP_016880689.1:p.Ile619CysfsTer17
XM_017025201.1:c.1851_1854dup	XP_016880690.1:p.Ile619CysfsTer17
XM_017025202.1:c.480_483dup	XP_016880691.1:p.Ile162CysfsTer17
XM_017025203.1:c.480_483dup	XP_016880692.1:p.Ile162CysfsTer17
NM_032043.3:c.2334_2337dup MANE Select	NP_114432.2:p.Ile780CysfsTer17