Canonical Allele Identifier: CA915950681

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 823897
• ClinVar RCV Id: RCV001020545
• dbSNP Id: rs1603274934

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683514del , CM000679.2:g.61683514del	GRCh38
NC_000017.10:g.59760875del , CM000679.1:g.59760875del	GRCh37
NC_000017.9:g.57115657del	NCBI36
NG_007409.2:g.185046del , LRG_300:g.185046del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2272del
ENST00000682453.1:c.3532del	ENSP00000506943.1:p.Glu1178LysfsTer2
ENST00000682477.1:c.*2958del	ENSP00000507075.1:n.*2958del
ENST00000682589.1:n.9409del
ENST00000682755.1:c.3310del	ENSP00000507660.1:p.Glu1104LysfsTer2
ENST00000682989.1:c.*623del	ENSP00000507786.1:n.*623del
ENST00000683039.1:c.3532del	ENSP00000508303.1:p.Glu1178LysfsTer2
ENST00000683235.1:c.*947del	ENSP00000507646.1:n.*947del
ENST00000683535.1:n.1662del
ENST00000684584.1:c.2695del	ENSP00000508044.1:p.Glu899LysfsTer2
ENST00000684626.1:n.1778del
ENST00000684769.1:c.1722del	ENSP00000507691.1:n.1722del
ENST00000259008.7:c.3532del MANE Select	ENSP00000259008.2:p.Glu1178LysfsTer2
ENST00000259008.6:c.3532del	ENSP00000259008.2:p.Glu1178LysfsTer2
NM_032043.2:c.3532del , LRG_300t1:c.3532del	NP_114432.2:p.Glu1178LysfsTer2
XM_011525332.1:c.3592del	XP_011523634.1:p.Glu1198LysfsTer2
XM_011525333.1:c.3592del	XP_011523635.1:p.Glu1198LysfsTer2
XM_011525334.1:c.3592del	XP_011523636.1:p.Glu1198LysfsTer2
XM_011525335.1:c.3532del	XP_011523637.1:p.Glu1178LysfsTer2
XM_011525336.1:c.3472del	XP_011523638.1:p.Glu1158LysfsTer2
XM_011525337.1:c.3391del	XP_011523639.1:p.Glu1131LysfsTer2
XM_011525338.1:c.3109del	XP_011523640.1:p.Glu1037LysfsTer2
XM_011525332.3:c.3592del	XP_011523634.1:p.Glu1198LysfsTer2
XM_011525333.3:c.3592del	XP_011523635.1:p.Glu1198LysfsTer2
XM_011525334.2:c.3592del	XP_011523636.1:p.Glu1198LysfsTer2
XM_011525335.3:c.3532del	XP_011523637.1:p.Glu1178LysfsTer2
XM_011525336.2:c.3472del	XP_011523638.1:p.Glu1158LysfsTer2
XM_011525337.2:c.3391del	XP_011523639.1:p.Glu1131LysfsTer2
XM_011525338.2:c.3109del	XP_011523640.1:p.Glu1037LysfsTer2
XM_017025200.1:c.3049del	XP_016880689.1:p.Glu1017LysfsTer2
XM_017025201.1:c.3049del	XP_016880690.1:p.Glu1017LysfsTer2
XM_017025202.1:c.1678del	XP_016880691.1:p.Glu560LysfsTer2
XM_017025203.1:c.1678del	XP_016880692.1:p.Glu560LysfsTer2
NM_032043.3:c.3532del MANE Select	NP_114432.2:p.Glu1178LysfsTer2