Canonical Allele Identifier: CA2740093830
Gene: BRIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3026733
ClinVar RCV Id: RCV003887126

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683695del , CM000679.2:g.61683695del GRCh38
NC_000017.10:g.59761056del , CM000679.1:g.59761056del GRCh37
NC_000017.9:g.57115838del NCBI36
NG_007409.2:g.184867del , LRG_300:g.184867del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.2093del
ENST00000682453.1:c.3353del ENSP00000506943.1:p.Asn1118IlefsTer?
ENST00000682477.1:c.*2779del ENSP00000507075.1:n.*2779del
ENST00000682589.1:n.9230del
ENST00000682755.1:c.3131del ENSP00000507660.1:p.Asn1044IlefsTer?
ENST00000682989.1:c.*444del ENSP00000507786.1:n.*444del
ENST00000683039.1:c.3353del ENSP00000508303.1:p.Asn1118IlefsTer?
ENST00000683235.1:c.*768del ENSP00000507646.1:n.*768del
ENST00000683535.1:n.1483del
ENST00000684584.1:c.2516del ENSP00000508044.1:p.Asn839IlefsTer?
ENST00000684626.1:n.1599del
ENST00000684769.1:c.1543del ENSP00000507691.1:n.1543del
ENST00000259008.7:c.3353del MANE Select ENSP00000259008.2:p.Asn1118IlefsTer?
ENST00000259008.6:c.3353del ENSP00000259008.2:p.Asn1118IlefsTer?
NM_032043.2:c.3353del , LRG_300t1:c.3353del NP_114432.2:p.Asn1118IlefsTer?
XM_011525332.1:c.3413del XP_011523634.1:p.Asn1138IlefsTer?
XM_011525333.1:c.3413del XP_011523635.1:p.Asn1138IlefsTer?
XM_011525334.1:c.3413del XP_011523636.1:p.Asn1138IlefsTer?
XM_011525335.1:c.3353del XP_011523637.1:p.Asn1118IlefsTer?
XM_011525336.1:c.3293del XP_011523638.1:p.Asn1098IlefsTer?
XM_011525337.1:c.3212del XP_011523639.1:p.Asn1071IlefsTer?
XM_011525338.1:c.2930del XP_011523640.1:p.Asn977IlefsTer?
XM_011525332.3:c.3413del XP_011523634.1:p.Asn1138IlefsTer?
XM_011525333.3:c.3413del XP_011523635.1:p.Asn1138IlefsTer?
XM_011525334.2:c.3413del XP_011523636.1:p.Asn1138IlefsTer?
XM_011525335.3:c.3353del XP_011523637.1:p.Asn1118IlefsTer?
XM_011525336.2:c.3293del XP_011523638.1:p.Asn1098IlefsTer?
XM_011525337.2:c.3212del XP_011523639.1:p.Asn1071IlefsTer?
XM_011525338.2:c.2930del XP_011523640.1:p.Asn977IlefsTer?
XM_017025200.1:c.2870del XP_016880689.1:p.Asn957IlefsTer?
XM_017025201.1:c.2870del XP_016880690.1:p.Asn957IlefsTer?
XM_017025202.1:c.1499del XP_016880691.1:p.Asn500IlefsTer?
XM_017025203.1:c.1499del XP_016880692.1:p.Asn500IlefsTer?
NM_032043.3:c.3353del MANE Select NP_114432.2:p.Asn1118IlefsTer?