Canonical Allele Identifier: CA658824188

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 545836
• ClinVar RCV Id: RCV000657405 ; RCV003459559
• dbSNP Id: rs1555572707

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683744_61683754delinsCTGGATCCAGAGACAA , CM000679.2:g.61683744_61683754delinsCTGGATCCAGAGACAA	GRCh38
NC_000017.10:g.59761105_59761115delinsCTGGATCCAGAGACAA , CM000679.1:g.59761105_59761115delinsCTGGATCCAGAGACAA	GRCh37
NC_000017.9:g.57115887_57115897delinsCTGGATCCAGAGACAA	NCBI36
NG_007409.2:g.184806_184816delinsTTGTCTCTGGATCCAG , LRG_300:g.184806_184816delinsTTGTCTCTGGATCCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2032_2042delinsTTGTCTCTGGATCCAG
ENST00000682453.1:c.3292_3302delinsTTGTCTCTGGATCCAG	ENSP00000506943.1:p.Ala1098LeufsTer12
ENST00000682477.1:c.*2718_*2728delinsTTGTCTCTGGATCCAG	ENSP00000507075.1:n.*2718_*2728delinsTTGTCTCTGGATCCAG
ENST00000682589.1:n.9169_9179delinsTTGTCTCTGGATCCAG
ENST00000682755.1:c.3070_3080delinsTTGTCTCTGGATCCAG	ENSP00000507660.1:p.Ala1024LeufsTer12
ENST00000682989.1:c.*383_*393delinsTTGTCTCTGGATCCAG	ENSP00000507786.1:n.*383_*393delinsTTGTCTCTGGATCCAG
ENST00000683039.1:c.3292_3302delinsTTGTCTCTGGATCCAG	ENSP00000508303.1:p.Ala1098LeufsTer12
ENST00000683235.1:c.*707_*717delinsTTGTCTCTGGATCCAG	ENSP00000507646.1:n.*707_*717delinsTTGTCTCTGGATCCAG
ENST00000683535.1:n.1422_1432delinsTTGTCTCTGGATCCAG
ENST00000684584.1:c.2455_2465delinsTTGTCTCTGGATCCAG	ENSP00000508044.1:p.Ala819LeufsTer12
ENST00000684626.1:n.1538_1548delinsTTGTCTCTGGATCCAG
ENST00000684769.1:c.1482_1492delinsTTGTCTCTGGATCCAG	ENSP00000507691.1:n.1482_1492delinsTTGTCTCTGGATCCAG
ENST00000259008.7:c.3292_3302delinsTTGTCTCTGGATCCAG MANE Select	ENSP00000259008.2:p.Ala1098LeufsTer12
ENST00000259008.6:c.3292_3302delinsTTGTCTCTGGATCCAG	ENSP00000259008.2:p.Ala1098LeufsTer12
NM_032043.2:c.3292_3302delinsTTGTCTCTGGATCCAG , LRG_300t1:c.3292_3302delinsTTGTCTCTGGATCCAG	NP_114432.2:p.Ala1098LeufsTer12
XM_011525332.1:c.3352_3362delinsTTGTCTCTGGATCCAG	XP_011523634.1:p.Ala1118LeufsTer12
XM_011525333.1:c.3352_3362delinsTTGTCTCTGGATCCAG	XP_011523635.1:p.Ala1118LeufsTer12
XM_011525334.1:c.3352_3362delinsTTGTCTCTGGATCCAG	XP_011523636.1:p.Ala1118LeufsTer12
XM_011525335.1:c.3292_3302delinsTTGTCTCTGGATCCAG	XP_011523637.1:p.Ala1098LeufsTer12
XM_011525336.1:c.3232_3242delinsTTGTCTCTGGATCCAG	XP_011523638.1:p.Ala1078LeufsTer12
XM_011525337.1:c.3151_3161delinsTTGTCTCTGGATCCAG	XP_011523639.1:p.Ala1051LeufsTer12
XM_011525338.1:c.2869_2879delinsTTGTCTCTGGATCCAG	XP_011523640.1:p.Ala957LeufsTer12
XM_011525332.3:c.3352_3362delinsTTGTCTCTGGATCCAG	XP_011523634.1:p.Ala1118LeufsTer12
XM_011525333.3:c.3352_3362delinsTTGTCTCTGGATCCAG	XP_011523635.1:p.Ala1118LeufsTer12
XM_011525334.2:c.3352_3362delinsTTGTCTCTGGATCCAG	XP_011523636.1:p.Ala1118LeufsTer12
XM_011525335.3:c.3292_3302delinsTTGTCTCTGGATCCAG	XP_011523637.1:p.Ala1098LeufsTer12
XM_011525336.2:c.3232_3242delinsTTGTCTCTGGATCCAG	XP_011523638.1:p.Ala1078LeufsTer12
XM_011525337.2:c.3151_3161delinsTTGTCTCTGGATCCAG	XP_011523639.1:p.Ala1051LeufsTer12
XM_011525338.2:c.2869_2879delinsTTGTCTCTGGATCCAG	XP_011523640.1:p.Ala957LeufsTer12
XM_017025200.1:c.2809_2819delinsTTGTCTCTGGATCCAG	XP_016880689.1:p.Ala937LeufsTer12
XM_017025201.1:c.2809_2819delinsTTGTCTCTGGATCCAG	XP_016880690.1:p.Ala937LeufsTer12
XM_017025202.1:c.1438_1448delinsTTGTCTCTGGATCCAG	XP_016880691.1:p.Ala480LeufsTer12
XM_017025203.1:c.1438_1448delinsTTGTCTCTGGATCCAG	XP_016880692.1:p.Ala480LeufsTer12
NM_032043.3:c.3292_3302delinsTTGTCTCTGGATCCAG MANE Select	NP_114432.2:p.Ala1098LeufsTer12