Canonical Allele Identifier: CA913187810

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 919631
• ClinVar RCV Id: RCV001177925 ; RCV003769915
• dbSNP Id: rs2061314506

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683792_61683793delinsAC , CM000679.2:g.61683792_61683793delinsAC	GRCh38
NC_000017.10:g.59761153_59761154delinsAC , CM000679.1:g.59761153_59761154delinsAC	GRCh37
NC_000017.9:g.57115935_57115936delinsAC	NCBI36
NG_007409.2:g.184767_184768delinsGT , LRG_300:g.184767_184768delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1993_1994delinsGT
ENST00000682453.1:c.3253_3254delinsGT	ENSP00000506943.1:p.Arg1085Val
ENST00000682477.1:c.*2679_*2680delinsGT	ENSP00000507075.1:n.*2679_*2680delinsGT
ENST00000682589.1:n.9130_9131delinsGT
ENST00000682755.1:c.3031_3032delinsGT	ENSP00000507660.1:p.Arg1011Val
ENST00000682989.1:c.*344_*345delinsGT	ENSP00000507786.1:n.*344_*345delinsGT
ENST00000683039.1:c.3253_3254delinsGT	ENSP00000508303.1:p.Arg1085Val
ENST00000683235.1:c.*668_*669delinsGT	ENSP00000507646.1:n.*668_*669delinsGT
ENST00000683535.1:n.1383_1384delinsGT
ENST00000684584.1:c.2416_2417delinsGT	ENSP00000508044.1:p.Arg806Val
ENST00000684626.1:n.1499_1500delinsGT
ENST00000684769.1:c.1443_1444delinsGT	ENSP00000507691.1:n.1443_1444delinsGT
ENST00000259008.7:c.3253_3254delinsGT MANE Select	ENSP00000259008.2:p.Arg1085Val
ENST00000259008.6:c.3253_3254delinsGT	ENSP00000259008.2:p.Arg1085Val
NM_032043.2:c.3253_3254delinsGT , LRG_300t1:c.3253_3254delinsGT	NP_114432.2:p.Arg1085Val
XM_011525332.1:c.3313_3314delinsGT	XP_011523634.1:p.Arg1105Val
XM_011525333.1:c.3313_3314delinsGT	XP_011523635.1:p.Arg1105Val
XM_011525334.1:c.3313_3314delinsGT	XP_011523636.1:p.Arg1105Val
XM_011525335.1:c.3253_3254delinsGT	XP_011523637.1:p.Arg1085Val
XM_011525336.1:c.3193_3194delinsGT	XP_011523638.1:p.Arg1065Val
XM_011525337.1:c.3112_3113delinsGT	XP_011523639.1:p.Arg1038Val
XM_011525338.1:c.2830_2831delinsGT	XP_011523640.1:p.Arg944Val
XM_011525332.3:c.3313_3314delinsGT	XP_011523634.1:p.Arg1105Val
XM_011525333.3:c.3313_3314delinsGT	XP_011523635.1:p.Arg1105Val
XM_011525334.2:c.3313_3314delinsGT	XP_011523636.1:p.Arg1105Val
XM_011525335.3:c.3253_3254delinsGT	XP_011523637.1:p.Arg1085Val
XM_011525336.2:c.3193_3194delinsGT	XP_011523638.1:p.Arg1065Val
XM_011525337.2:c.3112_3113delinsGT	XP_011523639.1:p.Arg1038Val
XM_011525338.2:c.2830_2831delinsGT	XP_011523640.1:p.Arg944Val
XM_017025200.1:c.2770_2771delinsGT	XP_016880689.1:p.Arg924Val
XM_017025201.1:c.2770_2771delinsGT	XP_016880690.1:p.Arg924Val
XM_017025202.1:c.1399_1400delinsGT	XP_016880691.1:p.Arg467Val
XM_017025203.1:c.1399_1400delinsGT	XP_016880692.1:p.Arg467Val
NM_032043.3:c.3253_3254delinsGT MANE Select	NP_114432.2:p.Arg1085Val