Canonical Allele Identifier: CA2499224782

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1172148
• ClinVar RCV Id: RCV001525798
• dbSNP Id: rs2144081338

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683752_61683754delinsAGACAA , CM000679.2:g.61683752_61683754delinsAGACAA	GRCh38
NC_000017.10:g.59761113_59761115delinsAGACAA , CM000679.1:g.59761113_59761115delinsAGACAA	GRCh37
NC_000017.9:g.57115895_57115897delinsAGACAA	NCBI36
NG_007409.2:g.184806_184808delinsTTGTCT , LRG_300:g.184806_184808delinsTTGTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2032_2034delinsTTGTCT
ENST00000682453.1:c.3292_3294delinsTTGTCT	ENSP00000506943.1:p.Ala1098delinsLeuSer
ENST00000682477.1:c.*2718_*2720delinsTTGTCT	ENSP00000507075.1:n.*2718_*2720delinsTTGTCT
ENST00000682589.1:n.9169_9171delinsTTGTCT
ENST00000682755.1:c.3070_3072delinsTTGTCT	ENSP00000507660.1:p.Ala1024delinsLeuSer
ENST00000682989.1:c.*383_*385delinsTTGTCT	ENSP00000507786.1:n.*383_*385delinsTTGTCT
ENST00000683039.1:c.3292_3294delinsTTGTCT	ENSP00000508303.1:p.Ala1098delinsLeuSer
ENST00000683235.1:c.*707_*709delinsTTGTCT	ENSP00000507646.1:n.*707_*709delinsTTGTCT
ENST00000683535.1:n.1422_1424delinsTTGTCT
ENST00000684584.1:c.2455_2457delinsTTGTCT	ENSP00000508044.1:p.Ala819delinsLeuSer
ENST00000684626.1:n.1538_1540delinsTTGTCT
ENST00000684769.1:c.1482_1484delinsTTGTCT	ENSP00000507691.1:n.1482_1484delinsTTGTCT
ENST00000259008.7:c.3292_3294delinsTTGTCT MANE Select	ENSP00000259008.2:p.Ala1098delinsLeuSer
ENST00000259008.6:c.3292_3294delinsTTGTCT	ENSP00000259008.2:p.Ala1098delinsLeuSer
NM_032043.2:c.3292_3294delinsTTGTCT , LRG_300t1:c.3292_3294delinsTTGTCT	NP_114432.2:p.Ala1098delinsLeuSer
XM_011525332.1:c.3352_3354delinsTTGTCT	XP_011523634.1:p.Ala1118delinsLeuSer
XM_011525333.1:c.3352_3354delinsTTGTCT	XP_011523635.1:p.Ala1118delinsLeuSer
XM_011525334.1:c.3352_3354delinsTTGTCT	XP_011523636.1:p.Ala1118delinsLeuSer
XM_011525335.1:c.3292_3294delinsTTGTCT	XP_011523637.1:p.Ala1098delinsLeuSer
XM_011525336.1:c.3232_3234delinsTTGTCT	XP_011523638.1:p.Ala1078delinsLeuSer
XM_011525337.1:c.3151_3153delinsTTGTCT	XP_011523639.1:p.Ala1051delinsLeuSer
XM_011525338.1:c.2869_2871delinsTTGTCT	XP_011523640.1:p.Ala957delinsLeuSer
XM_011525332.3:c.3352_3354delinsTTGTCT	XP_011523634.1:p.Ala1118delinsLeuSer
XM_011525333.3:c.3352_3354delinsTTGTCT	XP_011523635.1:p.Ala1118delinsLeuSer
XM_011525334.2:c.3352_3354delinsTTGTCT	XP_011523636.1:p.Ala1118delinsLeuSer
XM_011525335.3:c.3292_3294delinsTTGTCT	XP_011523637.1:p.Ala1098delinsLeuSer
XM_011525336.2:c.3232_3234delinsTTGTCT	XP_011523638.1:p.Ala1078delinsLeuSer
XM_011525337.2:c.3151_3153delinsTTGTCT	XP_011523639.1:p.Ala1051delinsLeuSer
XM_011525338.2:c.2869_2871delinsTTGTCT	XP_011523640.1:p.Ala957delinsLeuSer
XM_017025200.1:c.2809_2811delinsTTGTCT	XP_016880689.1:p.Ala937delinsLeuSer
XM_017025201.1:c.2809_2811delinsTTGTCT	XP_016880690.1:p.Ala937delinsLeuSer
XM_017025202.1:c.1438_1440delinsTTGTCT	XP_016880691.1:p.Ala480delinsLeuSer
XM_017025203.1:c.1438_1440delinsTTGTCT	XP_016880692.1:p.Ala480delinsLeuSer
NM_032043.3:c.3292_3294delinsTTGTCT MANE Select	NP_114432.2:p.Ala1098delinsLeuSer