Canonical Allele Identifier: CA2573154274

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1467202
• ClinVar RCV Id: RCV001990712
• dbSNP Id: rs2144069324

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683415del , CM000679.2:g.61683415del	GRCh38
NC_000017.10:g.59760776del , CM000679.1:g.59760776del	GRCh37
NC_000017.9:g.57115558del	NCBI36
NG_007409.2:g.185146del , LRG_300:g.185146del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2372del
ENST00000682453.1:c.3632del	ENSP00000506943.1:p.Gly1211ValfsTer3
ENST00000682477.1:c.*3058del	ENSP00000507075.1:n.*3058del
ENST00000682589.1:n.9509del
ENST00000682755.1:c.3410del	ENSP00000507660.1:p.Gly1137ValfsTer3
ENST00000682989.1:c.*723del	ENSP00000507786.1:n.*723del
ENST00000683039.1:c.3632del	ENSP00000508303.1:p.Gly1211ValfsTer3
ENST00000683235.1:c.*1047del	ENSP00000507646.1:n.*1047del
ENST00000683535.1:n.1762del
ENST00000684584.1:c.2795del	ENSP00000508044.1:p.Gly932ValfsTer3
ENST00000684626.1:n.1878del
ENST00000684769.1:c.1822del	ENSP00000507691.1:n.1822del
ENST00000259008.7:c.3632del MANE Select	ENSP00000259008.2:p.Gly1211ValfsTer3
ENST00000259008.6:c.3632del	ENSP00000259008.2:p.Gly1211ValfsTer3
NM_032043.2:c.3632del , LRG_300t1:c.3632del	NP_114432.2:p.Gly1211ValfsTer3
XM_011525332.1:c.3692del	XP_011523634.1:p.Gly1231ValfsTer3
XM_011525333.1:c.3692del	XP_011523635.1:p.Gly1231ValfsTer3
XM_011525334.1:c.3692del	XP_011523636.1:p.Gly1231ValfsTer3
XM_011525335.1:c.3632del	XP_011523637.1:p.Gly1211ValfsTer3
XM_011525336.1:c.3572del	XP_011523638.1:p.Gly1191ValfsTer3
XM_011525337.1:c.3491del	XP_011523639.1:p.Gly1164ValfsTer3
XM_011525338.1:c.3209del	XP_011523640.1:p.Gly1070ValfsTer3
XM_011525332.3:c.3692del	XP_011523634.1:p.Gly1231ValfsTer3
XM_011525333.3:c.3692del	XP_011523635.1:p.Gly1231ValfsTer3
XM_011525334.2:c.3692del	XP_011523636.1:p.Gly1231ValfsTer3
XM_011525335.3:c.3632del	XP_011523637.1:p.Gly1211ValfsTer3
XM_011525336.2:c.3572del	XP_011523638.1:p.Gly1191ValfsTer3
XM_011525337.2:c.3491del	XP_011523639.1:p.Gly1164ValfsTer3
XM_011525338.2:c.3209del	XP_011523640.1:p.Gly1070ValfsTer3
XM_017025200.1:c.3149del	XP_016880689.1:p.Gly1050ValfsTer3
XM_017025201.1:c.3149del	XP_016880690.1:p.Gly1050ValfsTer3
XM_017025202.1:c.1778del	XP_016880691.1:p.Gly593ValfsTer3
XM_017025203.1:c.1778del	XP_016880692.1:p.Gly593ValfsTer3
NM_032043.3:c.3632del MANE Select	NP_114432.2:p.Gly1211ValfsTer3