Canonical Allele Identifier: CA2269130774

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683439_61683440delinsCT , CM000679.2:g.61683439_61683440delinsCT	GRCh38
NC_000017.10:g.59760800_59760801delinsCT , CM000679.1:g.59760800_59760801delinsCT	GRCh37
NC_000017.9:g.57115582_57115583delinsCT	NCBI36
NG_007409.2:g.185120_185121delinsAG , LRG_300:g.185120_185121delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2346_2347delinsAG
ENST00000682453.1:c.3606_3607delinsAG	ENSP00000506943.1:p.Glu1202=
ENST00000682477.1:c.*3032_*3033delinsAG	ENSP00000507075.1:n.*3032_*3033delinsAG
ENST00000682589.1:n.9483_9484delinsAG
ENST00000682755.1:c.3384_3385delinsAG	ENSP00000507660.1:p.Glu1128=
ENST00000682989.1:c.*697_*698delinsAG	ENSP00000507786.1:n.*697_*698delinsAG
ENST00000683039.1:c.3606_3607delinsAG	ENSP00000508303.1:p.Glu1202=
ENST00000683235.1:c.*1021_*1022delinsAG	ENSP00000507646.1:n.*1021_*1022delinsAG
ENST00000683535.1:n.1736_1737delinsAG
ENST00000684584.1:c.2769_2770delinsAG	ENSP00000508044.1:p.Glu923=
ENST00000684626.1:n.1852_1853delinsAG
ENST00000684769.1:c.1796_1797delinsAG	ENSP00000507691.1:n.1796_1797delinsAG
ENST00000259008.7:c.3606_3607delinsAG MANE Select	ENSP00000259008.2:p.Glu1202=
ENST00000259008.6:c.3606_3607delinsAG	ENSP00000259008.2:p.Glu1202=
NM_032043.2:c.3606_3607delinsAG , LRG_300t1:c.3606_3607delinsAG	NP_114432.2:p.Glu1202=
XM_011525332.1:c.3666_3667delinsAG	XP_011523634.1:p.Glu1222=
XM_011525333.1:c.3666_3667delinsAG	XP_011523635.1:p.Glu1222=
XM_011525334.1:c.3666_3667delinsAG	XP_011523636.1:p.Glu1222=
XM_011525335.1:c.3606_3607delinsAG	XP_011523637.1:p.Glu1202=
XM_011525336.1:c.3546_3547delinsAG	XP_011523638.1:p.Glu1182=
XM_011525337.1:c.3465_3466delinsAG	XP_011523639.1:p.Glu1155=
XM_011525338.1:c.3183_3184delinsAG	XP_011523640.1:p.Glu1061=
XM_011525332.3:c.3666_3667delinsAG	XP_011523634.1:p.Glu1222=
XM_011525333.3:c.3666_3667delinsAG	XP_011523635.1:p.Glu1222=
XM_011525334.2:c.3666_3667delinsAG	XP_011523636.1:p.Glu1222=
XM_011525335.3:c.3606_3607delinsAG	XP_011523637.1:p.Glu1202=
XM_011525336.2:c.3546_3547delinsAG	XP_011523638.1:p.Glu1182=
XM_011525337.2:c.3465_3466delinsAG	XP_011523639.1:p.Glu1155=
XM_011525338.2:c.3183_3184delinsAG	XP_011523640.1:p.Glu1061=
XM_017025200.1:c.3123_3124delinsAG	XP_016880689.1:p.Glu1041=
XM_017025201.1:c.3123_3124delinsAG	XP_016880690.1:p.Glu1041=
XM_017025202.1:c.1752_1753delinsAG	XP_016880691.1:p.Glu584=
XM_017025203.1:c.1752_1753delinsAG	XP_016880692.1:p.Glu584=
NM_032043.3:c.3606_3607delinsAG MANE Select	NP_114432.2:p.Glu1202=