Canonical Allele Identifier: CA2639153821

Gene: BRIP1

Linked Data

• gnomAD v4: 17-61683636-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683639del , CM000679.2:g.61683639del	GRCh38
NC_000017.10:g.59761000del , CM000679.1:g.59761000del	GRCh37
NC_000017.9:g.57115782del	NCBI36
NG_007409.2:g.184923del , LRG_300:g.184923del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2149del
ENST00000682453.1:c.3409del	ENSP00000506943.1:p.Tyr1137MetfsTer13
ENST00000682477.1:c.*2835del	ENSP00000507075.1:n.*2835del
ENST00000682589.1:n.9286del
ENST00000682755.1:c.3187del	ENSP00000507660.1:p.Tyr1063MetfsTer13
ENST00000682989.1:c.*500del	ENSP00000507786.1:n.*500del
ENST00000683039.1:c.3409del	ENSP00000508303.1:p.Tyr1137MetfsTer13
ENST00000683235.1:c.*824del	ENSP00000507646.1:n.*824del
ENST00000683535.1:n.1539del
ENST00000684584.1:c.2572del	ENSP00000508044.1:p.Tyr858MetfsTer13
ENST00000684626.1:n.1655del
ENST00000684769.1:c.1599del	ENSP00000507691.1:n.1599del
ENST00000259008.7:c.3409del MANE Select	ENSP00000259008.2:p.Tyr1137MetfsTer13
ENST00000259008.6:c.3409del	ENSP00000259008.2:p.Tyr1137MetfsTer13
NM_032043.2:c.3409del , LRG_300t1:c.3409del	NP_114432.2:p.Tyr1137MetfsTer13
XM_011525332.1:c.3469del	XP_011523634.1:p.Tyr1157MetfsTer13
XM_011525333.1:c.3469del	XP_011523635.1:p.Tyr1157MetfsTer13
XM_011525334.1:c.3469del	XP_011523636.1:p.Tyr1157MetfsTer13
XM_011525335.1:c.3409del	XP_011523637.1:p.Tyr1137MetfsTer13
XM_011525336.1:c.3349del	XP_011523638.1:p.Tyr1117MetfsTer13
XM_011525337.1:c.3268del	XP_011523639.1:p.Tyr1090MetfsTer13
XM_011525338.1:c.2986del	XP_011523640.1:p.Tyr996MetfsTer13
XM_011525332.3:c.3469del	XP_011523634.1:p.Tyr1157MetfsTer13
XM_011525333.3:c.3469del	XP_011523635.1:p.Tyr1157MetfsTer13
XM_011525334.2:c.3469del	XP_011523636.1:p.Tyr1157MetfsTer13
XM_011525335.3:c.3409del	XP_011523637.1:p.Tyr1137MetfsTer13
XM_011525336.2:c.3349del	XP_011523638.1:p.Tyr1117MetfsTer13
XM_011525337.2:c.3268del	XP_011523639.1:p.Tyr1090MetfsTer13
XM_011525338.2:c.2986del	XP_011523640.1:p.Tyr996MetfsTer13
XM_017025200.1:c.2926del	XP_016880689.1:p.Tyr976MetfsTer13
XM_017025201.1:c.2926del	XP_016880690.1:p.Tyr976MetfsTer13
XM_017025202.1:c.1555del	XP_016880691.1:p.Tyr519MetfsTer13
XM_017025203.1:c.1555del	XP_016880692.1:p.Tyr519MetfsTer13
NM_032043.3:c.3409del MANE Select	NP_114432.2:p.Tyr1137MetfsTer13