Canonical Allele Identifier: CA2733822894
Gene: BRIP1 HGNC NCBI

Linked Data

dbSNP Id: rs2144085364

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683866del , CM000679.2:g.61683866del GRCh38
NC_000017.10:g.59761227del , CM000679.1:g.59761227del GRCh37
NC_000017.9:g.57116009del NCBI36
NG_007409.2:g.184696del , LRG_300:g.184696del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.1922del
ENST00000682453.1:c.3182del ENSP00000506943.1:p.Asn1061ThrfsTer17
ENST00000682477.1:c.*2608del ENSP00000507075.1:n.*2608del
ENST00000682589.1:n.9059del
ENST00000682755.1:c.2960del ENSP00000507660.1:p.Asn987ThrfsTer17
ENST00000682989.1:c.*273del ENSP00000507786.1:n.*273del
ENST00000683039.1:c.3182del ENSP00000508303.1:p.Asn1061ThrfsTer17
ENST00000683235.1:c.*597del ENSP00000507646.1:n.*597del
ENST00000683535.1:n.1312del
ENST00000684584.1:c.2345del ENSP00000508044.1:p.Asn782ThrfsTer17
ENST00000684626.1:n.1428del
ENST00000684769.1:c.1372del ENSP00000507691.1:n.1372del
ENST00000259008.7:c.3182del MANE Select ENSP00000259008.2:p.Asn1061ThrfsTer17
ENST00000259008.6:c.3182del ENSP00000259008.2:p.Asn1061ThrfsTer17
NM_032043.2:c.3182del , LRG_300t1:c.3182del NP_114432.2:p.Asn1061ThrfsTer17
XM_011525332.1:c.3242del XP_011523634.1:p.Asn1081ThrfsTer17
XM_011525333.1:c.3242del XP_011523635.1:p.Asn1081ThrfsTer17
XM_011525334.1:c.3242del XP_011523636.1:p.Asn1081ThrfsTer17
XM_011525335.1:c.3182del XP_011523637.1:p.Asn1061ThrfsTer17
XM_011525336.1:c.3122del XP_011523638.1:p.Asn1041ThrfsTer17
XM_011525337.1:c.3041del XP_011523639.1:p.Asn1014ThrfsTer17
XM_011525338.1:c.2759del XP_011523640.1:p.Asn920ThrfsTer17
XM_011525332.3:c.3242del XP_011523634.1:p.Asn1081ThrfsTer17
XM_011525333.3:c.3242del XP_011523635.1:p.Asn1081ThrfsTer17
XM_011525334.2:c.3242del XP_011523636.1:p.Asn1081ThrfsTer17
XM_011525335.3:c.3182del XP_011523637.1:p.Asn1061ThrfsTer17
XM_011525336.2:c.3122del XP_011523638.1:p.Asn1041ThrfsTer17
XM_011525337.2:c.3041del XP_011523639.1:p.Asn1014ThrfsTer17
XM_011525338.2:c.2759del XP_011523640.1:p.Asn920ThrfsTer17
XM_017025200.1:c.2699del XP_016880689.1:p.Asn900ThrfsTer17
XM_017025201.1:c.2699del XP_016880690.1:p.Asn900ThrfsTer17
XM_017025202.1:c.1328del XP_016880691.1:p.Asn443ThrfsTer17
XM_017025203.1:c.1328del XP_016880692.1:p.Asn443ThrfsTer17
NM_032043.3:c.3182del MANE Select NP_114432.2:p.Asn1061ThrfsTer17