Canonical Allele Identifier: CA16615832
Gene: BRIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 407872
ClinVar RCV Id: RCV000475128
dbSNP Id: rs1060501778
MyVariant Identifiers: chr17:g.59924541del (hg19) chr17:g.61847180del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61847182del , CM000679.2:g.61847182del GRCh38
NC_000017.10:g.59924543del , CM000679.1:g.59924543del GRCh37
NC_000017.9:g.57279325del NCBI36
NG_007409.2:g.21380del , LRG_300:g.21380del

Transcript Alleles

HGVS Amino-acid change
ENST00000577913.2:c.548del ENSP00000462274.2:p.Leu183TrpfsTer11
ENST00000579028.2:c.41del ENSP00000463827.2:p.Leu14TrpfsTer11
ENST00000584322.2:c.548del ENSP00000463272.2:p.Leu183TrpfsTer11
ENST00000682066.1:c.41del ENSP00000507191.1:p.Leu14TrpfsTer11
ENST00000682369.1:c.548del ENSP00000507450.1:p.Leu183TrpfsTer11
ENST00000682453.1:c.548del ENSP00000506943.1:p.Leu183TrpfsTer11
ENST00000682477.1:c.548del ENSP00000507075.1:p.Leu183TrpfsTer11
ENST00000682589.1:n.2289del
ENST00000682611.1:c.41del ENSP00000508326.1:p.Leu14TrpfsTer11
ENST00000682755.1:c.548del ENSP00000507660.1:p.Leu183TrpfsTer11
ENST00000682989.1:c.548del ENSP00000507786.1:p.Leu183TrpfsTer11
ENST00000683039.1:c.548del ENSP00000508303.1:p.Leu183TrpfsTer11
ENST00000683235.1:c.548del ENSP00000507646.1:p.Leu183TrpfsTer11
ENST00000683381.1:c.548del ENSP00000508184.1:p.Leu183TrpfsTer11
ENST00000683672.1:c.*36del ENSP00000506781.1:n.*36del
ENST00000683692.1:c.41del ENSP00000507964.1:p.Leu14TrpfsTer11
ENST00000684584.1:c.41del ENSP00000508044.1:p.Leu14TrpfsTer11
ENST00000259008.7:c.548del MANE Select ENSP00000259008.2:p.Leu183TrpfsTer11
ENST00000259008.6:c.548del ENSP00000259008.2:p.Leu183TrpfsTer11
ENST00000577598.5:c.548del ENSP00000464654.1:p.Leu183TrpfsTer11
NM_032043.2:c.548del , LRG_300t1:c.548del NP_114432.2:p.Leu183TrpfsTer11
XM_011525332.1:c.548del XP_011523634.1:p.Leu183TrpfsTer11
XM_011525333.1:c.548del XP_011523635.1:p.Leu183TrpfsTer11
XM_011525334.1:c.548del XP_011523636.1:p.Leu183TrpfsTer11
XM_011525335.1:c.548del XP_011523637.1:p.Leu183TrpfsTer11
XM_011525336.1:c.548del XP_011523638.1:p.Leu183TrpfsTer11
XM_011525337.1:c.548del XP_011523639.1:p.Leu183TrpfsTer11
XM_011525338.1:c.65del XP_011523640.1:p.Leu22TrpfsTer11
XM_011525339.1:c.548del XP_011523641.1:p.Leu183TrpfsTer11
XM_011525340.1:c.548del XP_011523642.1:p.Leu183TrpfsTer11
XM_011525341.1:c.548del XP_011523643.1:p.Leu183TrpfsTer11
XM_011525332.3:c.548del XP_011523634.1:p.Leu183TrpfsTer11
XM_011525333.3:c.548del XP_011523635.1:p.Leu183TrpfsTer11
XM_011525334.2:c.548del XP_011523636.1:p.Leu183TrpfsTer11
XM_011525335.3:c.548del XP_011523637.1:p.Leu183TrpfsTer11
XM_011525336.2:c.548del XP_011523638.1:p.Leu183TrpfsTer11
XM_011525337.2:c.548del XP_011523639.1:p.Leu183TrpfsTer11
XM_011525338.2:c.65del XP_011523640.1:p.Leu22TrpfsTer11
XM_011525339.3:c.548del XP_011523641.1:p.Leu183TrpfsTer11
XM_011525340.3:c.548del XP_011523642.1:p.Leu183TrpfsTer11
XM_011525341.3:c.548del XP_011523643.1:p.Leu183TrpfsTer11
XM_017025200.1:c.65del XP_016880689.1:p.Leu22TrpfsTer11
NM_032043.3:c.548del MANE Select NP_114432.2:p.Leu183TrpfsTer11
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