Canonical Allele Identifier: CA2580094555

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1732085
• ClinVar RCV Id: RCV002337544

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683543_61683544del , CM000679.2:g.61683543_61683544del	GRCh38
NC_000017.10:g.59760904_59760905del , CM000679.1:g.59760904_59760905del	GRCh37
NC_000017.9:g.57115686_57115687del	NCBI36
NG_007409.2:g.185017_185018del , LRG_300:g.185017_185018del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2243_2244del
ENST00000682453.1:c.3503_3504del	ENSP00000506943.1:p.Lys1168ArgfsTer4
ENST00000682477.1:c.*2929_*2930del	ENSP00000507075.1:n.*2929_*2930del
ENST00000682589.1:n.9380_9381del
ENST00000682755.1:c.3281_3282del	ENSP00000507660.1:p.Lys1094ArgfsTer4
ENST00000682989.1:c.*594_*595del	ENSP00000507786.1:n.*594_*595del
ENST00000683039.1:c.3503_3504del	ENSP00000508303.1:p.Lys1168ArgfsTer4
ENST00000683235.1:c.*918_*919del	ENSP00000507646.1:n.*918_*919del
ENST00000683535.1:n.1633_1634del
ENST00000684584.1:c.2666_2667del	ENSP00000508044.1:p.Lys889ArgfsTer4
ENST00000684626.1:n.1749_1750del
ENST00000684769.1:c.1693_1694del	ENSP00000507691.1:n.1693_1694del
ENST00000259008.7:c.3503_3504del MANE Select	ENSP00000259008.2:p.Lys1168ArgfsTer4
ENST00000259008.6:c.3503_3504del	ENSP00000259008.2:p.Lys1168ArgfsTer4
NM_032043.2:c.3503_3504del , LRG_300t1:c.3503_3504del	NP_114432.2:p.Lys1168ArgfsTer4
XM_011525332.1:c.3563_3564del	XP_011523634.1:p.Lys1188ArgfsTer4
XM_011525333.1:c.3563_3564del	XP_011523635.1:p.Lys1188ArgfsTer4
XM_011525334.1:c.3563_3564del	XP_011523636.1:p.Lys1188ArgfsTer4
XM_011525335.1:c.3503_3504del	XP_011523637.1:p.Lys1168ArgfsTer4
XM_011525336.1:c.3443_3444del	XP_011523638.1:p.Lys1148ArgfsTer4
XM_011525337.1:c.3362_3363del	XP_011523639.1:p.Lys1121ArgfsTer4
XM_011525338.1:c.3080_3081del	XP_011523640.1:p.Lys1027ArgfsTer4
XM_011525332.3:c.3563_3564del	XP_011523634.1:p.Lys1188ArgfsTer4
XM_011525333.3:c.3563_3564del	XP_011523635.1:p.Lys1188ArgfsTer4
XM_011525334.2:c.3563_3564del	XP_011523636.1:p.Lys1188ArgfsTer4
XM_011525335.3:c.3503_3504del	XP_011523637.1:p.Lys1168ArgfsTer4
XM_011525336.2:c.3443_3444del	XP_011523638.1:p.Lys1148ArgfsTer4
XM_011525337.2:c.3362_3363del	XP_011523639.1:p.Lys1121ArgfsTer4
XM_011525338.2:c.3080_3081del	XP_011523640.1:p.Lys1027ArgfsTer4
XM_017025200.1:c.3020_3021del	XP_016880689.1:p.Lys1007ArgfsTer4
XM_017025201.1:c.3020_3021del	XP_016880690.1:p.Lys1007ArgfsTer4
XM_017025202.1:c.1649_1650del	XP_016880691.1:p.Lys550ArgfsTer4
XM_017025203.1:c.1649_1650del	XP_016880692.1:p.Lys550ArgfsTer4
NM_032043.3:c.3503_3504del MANE Select	NP_114432.2:p.Lys1168ArgfsTer4