Canonical Allele Identifier: CA2580094552

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1732183
• ClinVar RCV Id: RCV002459239

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683537dup , CM000679.2:g.61683537dup	GRCh38
NC_000017.10:g.59760898dup , CM000679.1:g.59760898dup	GRCh37
NC_000017.9:g.57115680dup	NCBI36
NG_007409.2:g.185027dup , LRG_300:g.185027dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2253dup
ENST00000682453.1:c.3513dup	ENSP00000506943.1:p.Glu1172Ter
ENST00000682477.1:c.*2939dup	ENSP00000507075.1:n.*2939dup
ENST00000682589.1:n.9390dup
ENST00000682755.1:c.3291dup	ENSP00000507660.1:p.Glu1098Ter
ENST00000682989.1:c.*604dup	ENSP00000507786.1:n.*604dup
ENST00000683039.1:c.3513dup	ENSP00000508303.1:p.Glu1172Ter
ENST00000683235.1:c.*928dup	ENSP00000507646.1:n.*928dup
ENST00000683535.1:n.1643dup
ENST00000684584.1:c.2676dup	ENSP00000508044.1:p.Glu893Ter
ENST00000684626.1:n.1759dup
ENST00000684769.1:c.1703dup	ENSP00000507691.1:n.1703dup
ENST00000259008.7:c.3513dup MANE Select	ENSP00000259008.2:p.Glu1172Ter
ENST00000259008.6:c.3513dup	ENSP00000259008.2:p.Glu1172Ter
NM_032043.2:c.3513dup , LRG_300t1:c.3513dup	NP_114432.2:p.Glu1172Ter
XM_011525332.1:c.3573dup	XP_011523634.1:p.Glu1192Ter
XM_011525333.1:c.3573dup	XP_011523635.1:p.Glu1192Ter
XM_011525334.1:c.3573dup	XP_011523636.1:p.Glu1192Ter
XM_011525335.1:c.3513dup	XP_011523637.1:p.Glu1172Ter
XM_011525336.1:c.3453dup	XP_011523638.1:p.Glu1152Ter
XM_011525337.1:c.3372dup	XP_011523639.1:p.Glu1125Ter
XM_011525338.1:c.3090dup	XP_011523640.1:p.Glu1031Ter
XM_011525332.3:c.3573dup	XP_011523634.1:p.Glu1192Ter
XM_011525333.3:c.3573dup	XP_011523635.1:p.Glu1192Ter
XM_011525334.2:c.3573dup	XP_011523636.1:p.Glu1192Ter
XM_011525335.3:c.3513dup	XP_011523637.1:p.Glu1172Ter
XM_011525336.2:c.3453dup	XP_011523638.1:p.Glu1152Ter
XM_011525337.2:c.3372dup	XP_011523639.1:p.Glu1125Ter
XM_011525338.2:c.3090dup	XP_011523640.1:p.Glu1031Ter
XM_017025200.1:c.3030dup	XP_016880689.1:p.Glu1011Ter
XM_017025201.1:c.3030dup	XP_016880690.1:p.Glu1011Ter
XM_017025202.1:c.1659dup	XP_016880691.1:p.Glu554Ter
XM_017025203.1:c.1659dup	XP_016880692.1:p.Glu554Ter
NM_032043.3:c.3513dup MANE Select	NP_114432.2:p.Glu1172Ter