Canonical Allele Identifier: CA2733822906
Gene: BRIP1 HGNC NCBI

Linked Data

dbSNP Id: rs2144090425

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61684006del , CM000679.2:g.61684006del GRCh38
NC_000017.10:g.59761367del , CM000679.1:g.59761367del GRCh37
NC_000017.9:g.57116149del NCBI36
NG_007409.2:g.184555del , LRG_300:g.184555del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.1781del
ENST00000682453.1:c.3041del ENSP00000506943.1:p.Gly1014ValfsTer?
ENST00000682477.1:c.*2467del ENSP00000507075.1:n.*2467del
ENST00000682589.1:n.8918del
ENST00000682755.1:c.2819del ENSP00000507660.1:p.Gly940ValfsTer?
ENST00000682989.1:c.*132del ENSP00000507786.1:n.*132del
ENST00000683039.1:c.3041del ENSP00000508303.1:p.Gly1014ValfsTer?
ENST00000683235.1:c.*456del ENSP00000507646.1:n.*456del
ENST00000683535.1:n.1171del
ENST00000684584.1:c.2204del ENSP00000508044.1:p.Gly735ValfsTer?
ENST00000684626.1:n.1287del
ENST00000684769.1:c.1231del ENSP00000507691.1:n.1231del
ENST00000259008.7:c.3041del MANE Select ENSP00000259008.2:p.Gly1014ValfsTer?
ENST00000259008.6:c.3041del ENSP00000259008.2:p.Gly1014ValfsTer?
NM_032043.2:c.3041del , LRG_300t1:c.3041del NP_114432.2:p.Gly1014ValfsTer?
XM_011525332.1:c.3101del XP_011523634.1:p.Gly1034ValfsTer?
XM_011525333.1:c.3101del XP_011523635.1:p.Gly1034ValfsTer?
XM_011525334.1:c.3101del XP_011523636.1:p.Gly1034ValfsTer?
XM_011525335.1:c.3041del XP_011523637.1:p.Gly1014ValfsTer?
XM_011525336.1:c.2981del XP_011523638.1:p.Gly994ValfsTer?
XM_011525337.1:c.2900del XP_011523639.1:p.Gly967ValfsTer?
XM_011525338.1:c.2618del XP_011523640.1:p.Gly873ValfsTer?
XM_011525332.3:c.3101del XP_011523634.1:p.Gly1034ValfsTer?
XM_011525333.3:c.3101del XP_011523635.1:p.Gly1034ValfsTer?
XM_011525334.2:c.3101del XP_011523636.1:p.Gly1034ValfsTer?
XM_011525335.3:c.3041del XP_011523637.1:p.Gly1014ValfsTer?
XM_011525336.2:c.2981del XP_011523638.1:p.Gly994ValfsTer?
XM_011525337.2:c.2900del XP_011523639.1:p.Gly967ValfsTer?
XM_011525338.2:c.2618del XP_011523640.1:p.Gly873ValfsTer?
XM_017025200.1:c.2558del XP_016880689.1:p.Gly853ValfsTer?
XM_017025201.1:c.2558del XP_016880690.1:p.Gly853ValfsTer?
XM_017025202.1:c.1187del XP_016880691.1:p.Gly396ValfsTer?
XM_017025203.1:c.1187del XP_016880692.1:p.Gly396ValfsTer?
NM_032043.3:c.3041del MANE Select NP_114432.2:p.Gly1014ValfsTer?