Canonical Allele Identifier: CA2580094461

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1723381
• ClinVar RCV Id: RCV002308657

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61715957del , CM000679.2:g.61715957del	GRCh38
NC_000017.10:g.59793318del , CM000679.1:g.59793318del	GRCh37
NC_000017.9:g.57148100del	NCBI36
NG_007409.2:g.152604del , LRG_300:g.152604del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682066.1:c.2617del	ENSP00000507191.1:n.2617del
ENST00000682073.1:n.1227del
ENST00000682433.1:n.1566del
ENST00000682453.1:c.2487del	ENSP00000506943.1:p.Gly830ValfsTer15
ENST00000682477.1:c.*1913del	ENSP00000507075.1:n.*1913del
ENST00000682589.1:n.8364del
ENST00000682755.1:c.2265del	ENSP00000507660.1:p.Gly756ValfsTer15
ENST00000682989.1:c.2487del	ENSP00000507786.1:p.Gly830ValfsTer?
ENST00000683039.1:c.2487del	ENSP00000508303.1:p.Gly830ValfsTer15
ENST00000683235.1:c.2487del	ENSP00000507646.1:p.Gly830ValfsTer?
ENST00000683535.1:n.617del
ENST00000684471.1:n.900del
ENST00000684584.1:c.1980del	ENSP00000508044.1:p.Gly661ValfsTer15
ENST00000684626.1:n.816del
ENST00000684769.1:c.552del	ENSP00000507691.1:p.Gly185ValfsTer15
ENST00000259008.7:c.2487del MANE Select	ENSP00000259008.2:p.Gly830ValfsTer15
ENST00000259008.6:c.2487del	ENSP00000259008.2:p.Gly830ValfsTer15
ENST00000577598.5:c.2487del	ENSP00000464654.1:p.Gly830ValfsTer15
NM_032043.2:c.2487del , LRG_300t1:c.2487del	NP_114432.2:p.Gly830ValfsTer15
XM_011525332.1:c.2547del	XP_011523634.1:p.Gly850ValfsTer15
XM_011525333.1:c.2547del	XP_011523635.1:p.Gly850ValfsTer15
XM_011525334.1:c.2547del	XP_011523636.1:p.Gly850ValfsTer15
XM_011525335.1:c.2487del	XP_011523637.1:p.Gly830ValfsTer15
XM_011525336.1:c.2427del	XP_011523638.1:p.Gly810ValfsTer15
XM_011525337.1:c.2346del	XP_011523639.1:p.Gly783ValfsTer15
XM_011525338.1:c.2064del	XP_011523640.1:p.Gly689ValfsTer15
XM_011525340.1:c.2547del	XP_011523642.1:p.Gly850ValfsTer?
XM_011525332.3:c.2547del	XP_011523634.1:p.Gly850ValfsTer15
XM_011525333.3:c.2547del	XP_011523635.1:p.Gly850ValfsTer15
XM_011525334.2:c.2547del	XP_011523636.1:p.Gly850ValfsTer15
XM_011525335.3:c.2487del	XP_011523637.1:p.Gly830ValfsTer15
XM_011525336.2:c.2427del	XP_011523638.1:p.Gly810ValfsTer15
XM_011525337.2:c.2346del	XP_011523639.1:p.Gly783ValfsTer15
XM_011525338.2:c.2064del	XP_011523640.1:p.Gly689ValfsTer15
XM_011525340.3:c.2547del	XP_011523642.1:p.Gly850ValfsTer?
XM_017025200.1:c.2004del	XP_016880689.1:p.Gly669ValfsTer15
XM_017025201.1:c.2004del	XP_016880690.1:p.Gly669ValfsTer15
XM_017025202.1:c.633del	XP_016880691.1:p.Gly212ValfsTer15
XM_017025203.1:c.633del	XP_016880692.1:p.Gly212ValfsTer15
NM_032043.3:c.2487del MANE Select	NP_114432.2:p.Gly830ValfsTer15