Canonical Allele Identifier: CA298922
Gene: BRIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 182367
dbSNP Id: rs730881645

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683850del , CM000679.2:g.61683850del GRCh38
NC_000017.10:g.59761211del , CM000679.1:g.59761211del GRCh37
NC_000017.9:g.57115993del NCBI36
NG_007409.2:g.184710del , LRG_300:g.184710del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.1936del
ENST00000682453.1:c.3196del ENSP00000506943.1:p.Ser1066HisfsTer12
ENST00000682477.1:c.*2622del ENSP00000507075.1:n.*2622del
ENST00000682589.1:n.9073del
ENST00000682755.1:c.2974del ENSP00000507660.1:p.Ser992HisfsTer12
ENST00000682989.1:c.*287del ENSP00000507786.1:n.*287del
ENST00000683039.1:c.3196del ENSP00000508303.1:p.Ser1066HisfsTer12
ENST00000683235.1:c.*611del ENSP00000507646.1:n.*611del
ENST00000683535.1:n.1326del
ENST00000684584.1:c.2359del ENSP00000508044.1:p.Ser787HisfsTer12
ENST00000684626.1:n.1442del
ENST00000684769.1:c.1386del ENSP00000507691.1:n.1386del
ENST00000259008.7:c.3196del MANE Select ENSP00000259008.2:p.Ser1066HisfsTer12
ENST00000259008.6:c.3196del ENSP00000259008.2:p.Ser1066HisfsTer12
NM_032043.2:c.3196del , LRG_300t1:c.3196del NP_114432.2:p.Ser1066HisfsTer12
XM_011525332.1:c.3256del XP_011523634.1:p.Ser1086HisfsTer12
XM_011525333.1:c.3256del XP_011523635.1:p.Ser1086HisfsTer12
XM_011525334.1:c.3256del XP_011523636.1:p.Ser1086HisfsTer12
XM_011525335.1:c.3196del XP_011523637.1:p.Ser1066HisfsTer12
XM_011525336.1:c.3136del XP_011523638.1:p.Ser1046HisfsTer12
XM_011525337.1:c.3055del XP_011523639.1:p.Ser1019HisfsTer12
XM_011525338.1:c.2773del XP_011523640.1:p.Ser925HisfsTer12
XM_011525332.3:c.3256del XP_011523634.1:p.Ser1086HisfsTer12
XM_011525333.3:c.3256del XP_011523635.1:p.Ser1086HisfsTer12
XM_011525334.2:c.3256del XP_011523636.1:p.Ser1086HisfsTer12
XM_011525335.3:c.3196del XP_011523637.1:p.Ser1066HisfsTer12
XM_011525336.2:c.3136del XP_011523638.1:p.Ser1046HisfsTer12
XM_011525337.2:c.3055del XP_011523639.1:p.Ser1019HisfsTer12
XM_011525338.2:c.2773del XP_011523640.1:p.Ser925HisfsTer12
XM_017025200.1:c.2713del XP_016880689.1:p.Ser905HisfsTer12
XM_017025201.1:c.2713del XP_016880690.1:p.Ser905HisfsTer12
XM_017025202.1:c.1342del XP_016880691.1:p.Ser448HisfsTer12
XM_017025203.1:c.1342del XP_016880692.1:p.Ser448HisfsTer12
NM_032043.3:c.3196del MANE Select NP_114432.2:p.Ser1066HisfsTer12