Canonical Allele Identifier: CA2810059920

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683792del , CM000679.2:g.61683792del	GRCh38
NC_000017.10:g.59761153del , CM000679.1:g.59761153del	GRCh37
NC_000017.9:g.57115935del	NCBI36
NG_007409.2:g.184768del , LRG_300:g.184768del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1994del
ENST00000682453.1:c.3254del	ENSP00000506943.1:p.Arg1085LysfsTer23
ENST00000682477.1:c.*2680del	ENSP00000507075.1:n.*2680del
ENST00000682589.1:n.9131del
ENST00000682755.1:c.3032del	ENSP00000507660.1:p.Arg1011LysfsTer23
ENST00000682989.1:c.*345del	ENSP00000507786.1:n.*345del
ENST00000683039.1:c.3254del	ENSP00000508303.1:p.Arg1085LysfsTer23
ENST00000683235.1:c.*669del	ENSP00000507646.1:n.*669del
ENST00000683535.1:n.1384del
ENST00000684584.1:c.2417del	ENSP00000508044.1:p.Arg806LysfsTer23
ENST00000684626.1:n.1500del
ENST00000684769.1:c.1444del	ENSP00000507691.1:n.1444del
ENST00000259008.7:c.3254del MANE Select	ENSP00000259008.2:p.Arg1085LysfsTer23
ENST00000259008.6:c.3254del	ENSP00000259008.2:p.Arg1085LysfsTer23
NM_032043.2:c.3254del , LRG_300t1:c.3254del	NP_114432.2:p.Arg1085LysfsTer23
XM_011525332.1:c.3314del	XP_011523634.1:p.Arg1105LysfsTer23
XM_011525333.1:c.3314del	XP_011523635.1:p.Arg1105LysfsTer23
XM_011525334.1:c.3314del	XP_011523636.1:p.Arg1105LysfsTer23
XM_011525335.1:c.3254del	XP_011523637.1:p.Arg1085LysfsTer23
XM_011525336.1:c.3194del	XP_011523638.1:p.Arg1065LysfsTer23
XM_011525337.1:c.3113del	XP_011523639.1:p.Arg1038LysfsTer23
XM_011525338.1:c.2831del	XP_011523640.1:p.Arg944LysfsTer23
XM_011525332.3:c.3314del	XP_011523634.1:p.Arg1105LysfsTer23
XM_011525333.3:c.3314del	XP_011523635.1:p.Arg1105LysfsTer23
XM_011525334.2:c.3314del	XP_011523636.1:p.Arg1105LysfsTer23
XM_011525335.3:c.3254del	XP_011523637.1:p.Arg1085LysfsTer23
XM_011525336.2:c.3194del	XP_011523638.1:p.Arg1065LysfsTer23
XM_011525337.2:c.3113del	XP_011523639.1:p.Arg1038LysfsTer23
XM_011525338.2:c.2831del	XP_011523640.1:p.Arg944LysfsTer23
XM_017025200.1:c.2771del	XP_016880689.1:p.Arg924LysfsTer23
XM_017025201.1:c.2771del	XP_016880690.1:p.Arg924LysfsTer23
XM_017025202.1:c.1400del	XP_016880691.1:p.Arg467LysfsTer23
XM_017025203.1:c.1400del	XP_016880692.1:p.Arg467LysfsTer23
NM_032043.3:c.3254del MANE Select	NP_114432.2:p.Arg1085LysfsTer23