Canonical Allele Identifier: CA16620535
Gene: BRIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 421868
ClinVar RCV Id: RCV000479813
dbSNP Id: rs1064795413
MyVariant Identifiers: chr17:g.59876489del (hg19) chr17:g.61799128del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61799131del , CM000679.2:g.61799131del GRCh38
NC_000017.10:g.59876492del , CM000679.1:g.59876492del GRCh37
NC_000017.9:g.57231274del NCBI36
NG_007409.2:g.69432del , LRG_300:g.69432del

Transcript Alleles

HGVS Amino-acid change
ENST00000579028.2:c.805del ENSP00000463827.2:p.Leu269TyrfsTer12
ENST00000584322.2:c.1312del ENSP00000463272.2:p.Leu438TyrfsTer12
ENST00000682066.1:c.805del ENSP00000507191.1:p.Leu269TyrfsTer12
ENST00000682453.1:c.1312del ENSP00000506943.1:p.Leu438TyrfsTer12
ENST00000682477.1:c.1312del ENSP00000507075.1:p.Leu438TyrfsTer16
ENST00000682589.1:n.3053del
ENST00000682611.1:c.805del ENSP00000508326.1:p.Leu269TyrfsTer12
ENST00000682755.1:c.1090del ENSP00000507660.1:p.Leu364TyrfsTer12
ENST00000682989.1:c.1312del ENSP00000507786.1:p.Leu438TyrfsTer12
ENST00000683039.1:c.1312del ENSP00000508303.1:p.Leu438TyrfsTer12
ENST00000683235.1:c.1312del ENSP00000507646.1:p.Leu438TyrfsTer12
ENST00000683381.1:c.1312del ENSP00000508184.1:p.Leu438TyrfsTer12
ENST00000683692.1:c.890del ENSP00000507964.1:n.890del
ENST00000684584.1:c.805del ENSP00000508044.1:p.Leu269TyrfsTer12
ENST00000259008.7:c.1312del MANE Select ENSP00000259008.2:p.Leu438TyrfsTer12
ENST00000259008.6:c.1312del ENSP00000259008.2:p.Leu438TyrfsTer12
ENST00000577598.5:c.1312del ENSP00000464654.1:p.Leu438TyrfsTer12
NM_032043.2:c.1312del , LRG_300t1:c.1312del NP_114432.2:p.Leu438TyrfsTer12
XM_011525332.1:c.1312del XP_011523634.1:p.Leu438TyrfsTer12
XM_011525333.1:c.1312del XP_011523635.1:p.Leu438TyrfsTer12
XM_011525334.1:c.1312del XP_011523636.1:p.Leu438TyrfsTer12
XM_011525335.1:c.1312del XP_011523637.1:p.Leu438TyrfsTer12
XM_011525336.1:c.1312del XP_011523638.1:p.Leu438TyrfsTer12
XM_011525337.1:c.1312del XP_011523639.1:p.Leu438TyrfsTer12
XM_011525338.1:c.829del XP_011523640.1:p.Leu277TyrfsTer12
XM_011525339.1:c.1312del XP_011523641.1:p.Leu438TyrfsTer12
XM_011525340.1:c.1312del XP_011523642.1:p.Leu438TyrfsTer12
XM_011525341.1:c.1312del XP_011523643.1:p.Leu438TyrfsTer12
XM_011525332.3:c.1312del XP_011523634.1:p.Leu438TyrfsTer12
XM_011525333.3:c.1312del XP_011523635.1:p.Leu438TyrfsTer12
XM_011525334.2:c.1312del XP_011523636.1:p.Leu438TyrfsTer12
XM_011525335.3:c.1312del XP_011523637.1:p.Leu438TyrfsTer12
XM_011525336.2:c.1312del XP_011523638.1:p.Leu438TyrfsTer12
XM_011525337.2:c.1312del XP_011523639.1:p.Leu438TyrfsTer12
XM_011525338.2:c.829del XP_011523640.1:p.Leu277TyrfsTer12
XM_011525339.3:c.1312del XP_011523641.1:p.Leu438TyrfsTer12
XM_011525340.3:c.1312del XP_011523642.1:p.Leu438TyrfsTer12
XM_011525341.3:c.1312del XP_011523643.1:p.Leu438TyrfsTer12
XM_017025200.1:c.829del XP_016880689.1:p.Leu277TyrfsTer12
XM_017025201.1:c.769del XP_016880690.1:p.Leu257TyrfsTer12
NM_032043.3:c.1312del MANE Select NP_114432.2:p.Leu438TyrfsTer12
Search 100 bp 5'
Search 100 bp 3'