Canonical Allele Identifier: CA2269130964

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683743_61683754delinsTGGATCCAGGGC , CM000679.2:g.61683743_61683754delinsTGGATCCAGGGC	GRCh38
NC_000017.10:g.59761104_59761115delinsTGGATCCAGGGC , CM000679.1:g.59761104_59761115delinsTGGATCCAGGGC	GRCh37
NC_000017.9:g.57115886_57115897delinsTGGATCCAGGGC	NCBI36
NG_007409.2:g.184806_184817delinsGCCCTGGATCCA , LRG_300:g.184806_184817delinsGCCCTGGATCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2032_2043delinsGCCCTGGATCCA
ENST00000682453.1:c.3292_3303delinsGCCCTGGATCCA	ENSP00000506943.1:p.Ala1098=
ENST00000682477.1:c.*2718_*2729delinsGCCCTGGATCCA	ENSP00000507075.1:n.*2718_*2729delinsGCCCTGGATCCA
ENST00000682589.1:n.9169_9180delinsGCCCTGGATCCA
ENST00000682755.1:c.3070_3081delinsGCCCTGGATCCA	ENSP00000507660.1:p.Ala1024=
ENST00000682989.1:c.*383_*394delinsGCCCTGGATCCA	ENSP00000507786.1:n.*383_*394delinsGCCCTGGATCCA
ENST00000683039.1:c.3292_3303delinsGCCCTGGATCCA	ENSP00000508303.1:p.Ala1098=
ENST00000683235.1:c.*707_*718delinsGCCCTGGATCCA	ENSP00000507646.1:n.*707_*718delinsGCCCTGGATCCA
ENST00000683535.1:n.1422_1433delinsGCCCTGGATCCA
ENST00000684584.1:c.2455_2466delinsGCCCTGGATCCA	ENSP00000508044.1:p.Ala819=
ENST00000684626.1:n.1538_1549delinsGCCCTGGATCCA
ENST00000684769.1:c.1482_1493delinsGCCCTGGATCCA	ENSP00000507691.1:n.1482_1493delinsGCCCTGGATCCA
ENST00000259008.7:c.3292_3303delinsGCCCTGGATCCA MANE Select	ENSP00000259008.2:p.Ala1098=
ENST00000259008.6:c.3292_3303delinsGCCCTGGATCCA	ENSP00000259008.2:p.Ala1098=
NM_032043.2:c.3292_3303delinsGCCCTGGATCCA , LRG_300t1:c.3292_3303delinsGCCCTGGATCCA	NP_114432.2:p.Ala1098=
XM_011525332.1:c.3352_3363delinsGCCCTGGATCCA	XP_011523634.1:p.Ala1118=
XM_011525333.1:c.3352_3363delinsGCCCTGGATCCA	XP_011523635.1:p.Ala1118=
XM_011525334.1:c.3352_3363delinsGCCCTGGATCCA	XP_011523636.1:p.Ala1118=
XM_011525335.1:c.3292_3303delinsGCCCTGGATCCA	XP_011523637.1:p.Ala1098=
XM_011525336.1:c.3232_3243delinsGCCCTGGATCCA	XP_011523638.1:p.Ala1078=
XM_011525337.1:c.3151_3162delinsGCCCTGGATCCA	XP_011523639.1:p.Ala1051=
XM_011525338.1:c.2869_2880delinsGCCCTGGATCCA	XP_011523640.1:p.Ala957=
XM_011525332.3:c.3352_3363delinsGCCCTGGATCCA	XP_011523634.1:p.Ala1118=
XM_011525333.3:c.3352_3363delinsGCCCTGGATCCA	XP_011523635.1:p.Ala1118=
XM_011525334.2:c.3352_3363delinsGCCCTGGATCCA	XP_011523636.1:p.Ala1118=
XM_011525335.3:c.3292_3303delinsGCCCTGGATCCA	XP_011523637.1:p.Ala1098=
XM_011525336.2:c.3232_3243delinsGCCCTGGATCCA	XP_011523638.1:p.Ala1078=
XM_011525337.2:c.3151_3162delinsGCCCTGGATCCA	XP_011523639.1:p.Ala1051=
XM_011525338.2:c.2869_2880delinsGCCCTGGATCCA	XP_011523640.1:p.Ala957=
XM_017025200.1:c.2809_2820delinsGCCCTGGATCCA	XP_016880689.1:p.Ala937=
XM_017025201.1:c.2809_2820delinsGCCCTGGATCCA	XP_016880690.1:p.Ala937=
XM_017025202.1:c.1438_1449delinsGCCCTGGATCCA	XP_016880691.1:p.Ala480=
XM_017025203.1:c.1438_1449delinsGCCCTGGATCCA	XP_016880692.1:p.Ala480=
NM_032043.3:c.3292_3303delinsGCCCTGGATCCA MANE Select	NP_114432.2:p.Ala1098=