Canonical Allele Identifier: CA2269131044

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683866_61683873delinsTACTGTCA , CM000679.2:g.61683866_61683873delinsTACTGTCA	GRCh38
NC_000017.10:g.59761227_59761234delinsTACTGTCA , CM000679.1:g.59761227_59761234delinsTACTGTCA	GRCh37
NC_000017.9:g.57116009_57116016delinsTACTGTCA	NCBI36
NG_007409.2:g.184687_184694delinsTGACAGTA , LRG_300:g.184687_184694delinsTGACAGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1913_1920delinsTGACAGTA
ENST00000682453.1:c.3173_3180delinsTGACAGTA	ENSP00000506943.1:p.Leu1058=
ENST00000682477.1:c.*2599_*2606delinsTGACAGTA	ENSP00000507075.1:n.*2599_*2606delinsTGACAGTA
ENST00000682589.1:n.9050_9057delinsTGACAGTA
ENST00000682755.1:c.2951_2958delinsTGACAGTA	ENSP00000507660.1:p.Leu984=
ENST00000682989.1:c.*264_*271delinsTGACAGTA	ENSP00000507786.1:n.*264_*271delinsTGACAGTA
ENST00000683039.1:c.3173_3180delinsTGACAGTA	ENSP00000508303.1:p.Leu1058=
ENST00000683235.1:c.*588_*595delinsTGACAGTA	ENSP00000507646.1:n.*588_*595delinsTGACAGTA
ENST00000683535.1:n.1303_1310delinsTGACAGTA
ENST00000684584.1:c.2336_2343delinsTGACAGTA	ENSP00000508044.1:p.Leu779=
ENST00000684626.1:n.1419_1426delinsTGACAGTA
ENST00000684769.1:c.1363_1370delinsTGACAGTA	ENSP00000507691.1:n.1363_1370delinsTGACAGTA
ENST00000259008.7:c.3173_3180delinsTGACAGTA MANE Select	ENSP00000259008.2:p.Leu1058=
ENST00000259008.6:c.3173_3180delinsTGACAGTA	ENSP00000259008.2:p.Leu1058=
NM_032043.2:c.3173_3180delinsTGACAGTA , LRG_300t1:c.3173_3180delinsTGACAGTA	NP_114432.2:p.Leu1058=
XM_011525332.1:c.3233_3240delinsTGACAGTA	XP_011523634.1:p.Leu1078=
XM_011525333.1:c.3233_3240delinsTGACAGTA	XP_011523635.1:p.Leu1078=
XM_011525334.1:c.3233_3240delinsTGACAGTA	XP_011523636.1:p.Leu1078=
XM_011525335.1:c.3173_3180delinsTGACAGTA	XP_011523637.1:p.Leu1058=
XM_011525336.1:c.3113_3120delinsTGACAGTA	XP_011523638.1:p.Leu1038=
XM_011525337.1:c.3032_3039delinsTGACAGTA	XP_011523639.1:p.Leu1011=
XM_011525338.1:c.2750_2757delinsTGACAGTA	XP_011523640.1:p.Leu917=
XM_011525332.3:c.3233_3240delinsTGACAGTA	XP_011523634.1:p.Leu1078=
XM_011525333.3:c.3233_3240delinsTGACAGTA	XP_011523635.1:p.Leu1078=
XM_011525334.2:c.3233_3240delinsTGACAGTA	XP_011523636.1:p.Leu1078=
XM_011525335.3:c.3173_3180delinsTGACAGTA	XP_011523637.1:p.Leu1058=
XM_011525336.2:c.3113_3120delinsTGACAGTA	XP_011523638.1:p.Leu1038=
XM_011525337.2:c.3032_3039delinsTGACAGTA	XP_011523639.1:p.Leu1011=
XM_011525338.2:c.2750_2757delinsTGACAGTA	XP_011523640.1:p.Leu917=
XM_017025200.1:c.2690_2697delinsTGACAGTA	XP_016880689.1:p.Leu897=
XM_017025201.1:c.2690_2697delinsTGACAGTA	XP_016880690.1:p.Leu897=
XM_017025202.1:c.1319_1326delinsTGACAGTA	XP_016880691.1:p.Leu440=
XM_017025203.1:c.1319_1326delinsTGACAGTA	XP_016880692.1:p.Leu440=
NM_032043.3:c.3173_3180delinsTGACAGTA MANE Select	NP_114432.2:p.Leu1058=