Canonical Allele Identifier: CA2557238372

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683669del , CM000679.2:g.61683669del	GRCh38
NC_000017.10:g.59761030del , CM000679.1:g.59761030del	GRCh37
NC_000017.9:g.57115812del	NCBI36
NG_007409.2:g.184892del , LRG_300:g.184892del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2118del
ENST00000682453.1:c.3378del	ENSP00000506943.1:p.Asp1127MetfsTer23
ENST00000682477.1:c.*2804del	ENSP00000507075.1:n.*2804del
ENST00000682589.1:n.9255del
ENST00000682755.1:c.3156del	ENSP00000507660.1:p.Asp1053MetfsTer23
ENST00000682989.1:c.*469del	ENSP00000507786.1:n.*469del
ENST00000683039.1:c.3378del	ENSP00000508303.1:p.Asp1127MetfsTer23
ENST00000683235.1:c.*793del	ENSP00000507646.1:n.*793del
ENST00000683535.1:n.1508del
ENST00000684584.1:c.2541del	ENSP00000508044.1:p.Asp848MetfsTer23
ENST00000684626.1:n.1624del
ENST00000684769.1:c.1568del	ENSP00000507691.1:n.1568del
ENST00000259008.7:c.3378del MANE Select	ENSP00000259008.2:p.Asp1127MetfsTer23
ENST00000259008.6:c.3378del	ENSP00000259008.2:p.Asp1127MetfsTer23
NM_032043.2:c.3378del , LRG_300t1:c.3378del	NP_114432.2:p.Asp1127MetfsTer23
XM_011525332.1:c.3438del	XP_011523634.1:p.Asp1147MetfsTer23
XM_011525333.1:c.3438del	XP_011523635.1:p.Asp1147MetfsTer23
XM_011525334.1:c.3438del	XP_011523636.1:p.Asp1147MetfsTer23
XM_011525335.1:c.3378del	XP_011523637.1:p.Asp1127MetfsTer23
XM_011525336.1:c.3318del	XP_011523638.1:p.Asp1107MetfsTer23
XM_011525337.1:c.3237del	XP_011523639.1:p.Asp1080MetfsTer23
XM_011525338.1:c.2955del	XP_011523640.1:p.Asp986MetfsTer23
XM_011525332.3:c.3438del	XP_011523634.1:p.Asp1147MetfsTer23
XM_011525333.3:c.3438del	XP_011523635.1:p.Asp1147MetfsTer23
XM_011525334.2:c.3438del	XP_011523636.1:p.Asp1147MetfsTer23
XM_011525335.3:c.3378del	XP_011523637.1:p.Asp1127MetfsTer23
XM_011525336.2:c.3318del	XP_011523638.1:p.Asp1107MetfsTer23
XM_011525337.2:c.3237del	XP_011523639.1:p.Asp1080MetfsTer23
XM_011525338.2:c.2955del	XP_011523640.1:p.Asp986MetfsTer23
XM_017025200.1:c.2895del	XP_016880689.1:p.Asp966MetfsTer23
XM_017025201.1:c.2895del	XP_016880690.1:p.Asp966MetfsTer23
XM_017025202.1:c.1524del	XP_016880691.1:p.Asp509MetfsTer23
XM_017025203.1:c.1524del	XP_016880692.1:p.Asp509MetfsTer23
NM_032043.3:c.3378del MANE Select	NP_114432.2:p.Asp1127MetfsTer23