Canonical Allele Identifier: CA658658651

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 485464
• ClinVar RCV Id: RCV000572464
• dbSNP Id: rs1555572799

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683867_61683873delinsGAG , CM000679.2:g.61683867_61683873delinsGAG	GRCh38
NC_000017.10:g.59761228_59761234delinsGAG , CM000679.1:g.59761228_59761234delinsGAG	GRCh37
NC_000017.9:g.57116010_57116016delinsGAG	NCBI36
NG_007409.2:g.184687_184693delinsCTC , LRG_300:g.184687_184693delinsCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1913_1919delinsCTC
ENST00000682453.1:c.3173_3179delinsCTC	ENSP00000506943.1:p.Leu1058ProfsTer19
ENST00000682477.1:c.*2599_*2605delinsCTC	ENSP00000507075.1:n.*2599_*2605delinsCTC
ENST00000682589.1:n.9050_9056delinsCTC
ENST00000682755.1:c.2951_2957delinsCTC	ENSP00000507660.1:p.Leu984ProfsTer19
ENST00000682989.1:c.*264_*270delinsCTC	ENSP00000507786.1:n.*264_*270delinsCTC
ENST00000683039.1:c.3173_3179delinsCTC	ENSP00000508303.1:p.Leu1058ProfsTer19
ENST00000683235.1:c.*588_*594delinsCTC	ENSP00000507646.1:n.*588_*594delinsCTC
ENST00000683535.1:n.1303_1309delinsCTC
ENST00000684584.1:c.2336_2342delinsCTC	ENSP00000508044.1:p.Leu779ProfsTer19
ENST00000684626.1:n.1419_1425delinsCTC
ENST00000684769.1:c.1363_1369delinsCTC	ENSP00000507691.1:n.1363_1369delinsCTC
ENST00000259008.7:c.3173_3179delinsCTC MANE Select	ENSP00000259008.2:p.Leu1058ProfsTer19
ENST00000259008.6:c.3173_3179delinsCTC	ENSP00000259008.2:p.Leu1058ProfsTer19
NM_032043.2:c.3173_3179delinsCTC , LRG_300t1:c.3173_3179delinsCTC	NP_114432.2:p.Leu1058ProfsTer19
XM_011525332.1:c.3233_3239delinsCTC	XP_011523634.1:p.Leu1078ProfsTer19
XM_011525333.1:c.3233_3239delinsCTC	XP_011523635.1:p.Leu1078ProfsTer19
XM_011525334.1:c.3233_3239delinsCTC	XP_011523636.1:p.Leu1078ProfsTer19
XM_011525335.1:c.3173_3179delinsCTC	XP_011523637.1:p.Leu1058ProfsTer19
XM_011525336.1:c.3113_3119delinsCTC	XP_011523638.1:p.Leu1038ProfsTer19
XM_011525337.1:c.3032_3038delinsCTC	XP_011523639.1:p.Leu1011ProfsTer19
XM_011525338.1:c.2750_2756delinsCTC	XP_011523640.1:p.Leu917ProfsTer19
XM_011525332.3:c.3233_3239delinsCTC	XP_011523634.1:p.Leu1078ProfsTer19
XM_011525333.3:c.3233_3239delinsCTC	XP_011523635.1:p.Leu1078ProfsTer19
XM_011525334.2:c.3233_3239delinsCTC	XP_011523636.1:p.Leu1078ProfsTer19
XM_011525335.3:c.3173_3179delinsCTC	XP_011523637.1:p.Leu1058ProfsTer19
XM_011525336.2:c.3113_3119delinsCTC	XP_011523638.1:p.Leu1038ProfsTer19
XM_011525337.2:c.3032_3038delinsCTC	XP_011523639.1:p.Leu1011ProfsTer19
XM_011525338.2:c.2750_2756delinsCTC	XP_011523640.1:p.Leu917ProfsTer19
XM_017025200.1:c.2690_2696delinsCTC	XP_016880689.1:p.Leu897ProfsTer19
XM_017025201.1:c.2690_2696delinsCTC	XP_016880690.1:p.Leu897ProfsTer19
XM_017025202.1:c.1319_1325delinsCTC	XP_016880691.1:p.Leu440ProfsTer19
XM_017025203.1:c.1319_1325delinsCTC	XP_016880692.1:p.Leu440ProfsTer19
NM_032043.3:c.3173_3179delinsCTC MANE Select	NP_114432.2:p.Leu1058ProfsTer19