Canonical Allele Identifier: CA658658658

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 461043
• ClinVar RCV Id: RCV001389637
• dbSNP Id: rs1555580769
• MyVariant Identifiers: chr17:g.59793313del (hg19) ; chr17:g.61715952del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61715952del , CM000679.2:g.61715952del	GRCh38
NC_000017.10:g.59793313del , CM000679.1:g.59793313del	GRCh37
NC_000017.9:g.57148095del	NCBI36
NG_007409.2:g.152608del , LRG_300:g.152608del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682066.1:c.2621del	ENSP00000507191.1:n.2621del
ENST00000682073.1:n.1231del
ENST00000682433.1:n.1570del
ENST00000682453.1:c.2491del	ENSP00000506943.1:p.Arg831AspfsTer14
ENST00000682477.1:c.*1917del	ENSP00000507075.1:n.*1917del
ENST00000682589.1:n.8368del
ENST00000682755.1:c.2269del	ENSP00000507660.1:p.Arg757AspfsTer14
ENST00000682989.1:c.2491del	ENSP00000507786.1:p.Arg831GlyfsTer?
ENST00000683039.1:c.2491del	ENSP00000508303.1:p.Arg831AspfsTer14
ENST00000683235.1:c.2491del	ENSP00000507646.1:p.Arg831GlyfsTer?
ENST00000683535.1:n.621del
ENST00000684471.1:n.904del
ENST00000684584.1:c.1984del	ENSP00000508044.1:p.Arg662AspfsTer14
ENST00000684626.1:n.820del
ENST00000684769.1:c.556del	ENSP00000507691.1:p.Arg186AspfsTer14
ENST00000259008.7:c.2491del MANE Select	ENSP00000259008.2:p.Arg831AspfsTer14
ENST00000259008.6:c.2491del	ENSP00000259008.2:p.Arg831AspfsTer14
ENST00000577598.5:c.2491del	ENSP00000464654.1:p.Arg831AspfsTer14
NM_032043.2:c.2491del , LRG_300t1:c.2491del	NP_114432.2:p.Arg831AspfsTer14
XM_011525332.1:c.2551del	XP_011523634.1:p.Arg851AspfsTer14
XM_011525333.1:c.2551del	XP_011523635.1:p.Arg851AspfsTer14
XM_011525334.1:c.2551del	XP_011523636.1:p.Arg851AspfsTer14
XM_011525335.1:c.2491del	XP_011523637.1:p.Arg831AspfsTer14
XM_011525336.1:c.2431del	XP_011523638.1:p.Arg811AspfsTer14
XM_011525337.1:c.2350del	XP_011523639.1:p.Arg784AspfsTer14
XM_011525338.1:c.2068del	XP_011523640.1:p.Arg690AspfsTer14
XM_011525340.1:c.2551del	XP_011523642.1:p.Arg851GlyfsTer?
XM_011525332.3:c.2551del	XP_011523634.1:p.Arg851AspfsTer14
XM_011525333.3:c.2551del	XP_011523635.1:p.Arg851AspfsTer14
XM_011525334.2:c.2551del	XP_011523636.1:p.Arg851AspfsTer14
XM_011525335.3:c.2491del	XP_011523637.1:p.Arg831AspfsTer14
XM_011525336.2:c.2431del	XP_011523638.1:p.Arg811AspfsTer14
XM_011525337.2:c.2350del	XP_011523639.1:p.Arg784AspfsTer14
XM_011525338.2:c.2068del	XP_011523640.1:p.Arg690AspfsTer14
XM_011525340.3:c.2551del	XP_011523642.1:p.Arg851GlyfsTer?
XM_017025200.1:c.2008del	XP_016880689.1:p.Arg670AspfsTer14
XM_017025201.1:c.2008del	XP_016880690.1:p.Arg670AspfsTer14
XM_017025202.1:c.637del	XP_016880691.1:p.Arg213AspfsTer14
XM_017025203.1:c.637del	XP_016880692.1:p.Arg213AspfsTer14
NM_032043.3:c.2491del MANE Select	NP_114432.2:p.Arg831AspfsTer14