Canonical Allele Identifier: CA2269174983

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61789777_61789779delinsATG , CM000679.2:g.61789777_61789779delinsATG	GRCh38
NC_000017.10:g.59867138_59867140delinsATG , CM000679.1:g.59867138_59867140delinsATG	GRCh37
NC_000017.9:g.57221920_57221922delinsATG	NCBI36
NG_007409.2:g.78781_78783delinsCAT , LRG_300:g.78781_78783delinsCAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000579028.2:c.966+3818_966+3820delinsCAT	ENSP00000463827.2:n.966+3818_966+3820deli...
ENST00000584322.2:c.1473+3818_1473+3820delinsCAT	ENSP00000463272.2:n.1473+3818_1473+3820de...
ENST00000682066.1:c.966+3818_966+3820delinsCAT	ENSP00000507191.1:n.966+3818_966+3820deli...
ENST00000682453.1:c.1473+3818_1473+3820delinsCAT	ENSP00000506943.1:n.1473+3818_1473+3820de...
ENST00000682477.1:c.*899+3818_*899+3820delinsCAT	ENSP00000507075.1:n.*899+3818_*899+3820de...
ENST00000682589.1:n.3214+3818_3214+3820delinsCAT
ENST00000682611.1:c.966+3818_966+3820delinsCAT	ENSP00000508326.1:n.966+3818_966+3820deli...
ENST00000682755.1:c.1251+3818_1251+3820delinsCAT	ENSP00000507660.1:n.1251+3818_1251+3820de...
ENST00000682989.1:c.1473+3818_1473+3820delinsCAT	ENSP00000507786.1:n.1473+3818_1473+3820de...
ENST00000683039.1:c.1473+3818_1473+3820delinsCAT	ENSP00000508303.1:n.1473+3818_1473+3820de...
ENST00000683235.1:c.1473+3818_1473+3820delinsCAT	ENSP00000507646.1:n.1473+3818_1473+3820de...
ENST00000683381.1:c.1473+3818_1473+3820delinsCAT	ENSP00000508184.1:n.1473+3818_1473+3820de...
ENST00000684584.1:c.966+3818_966+3820delinsCAT	ENSP00000508044.1:n.966+3818_966+3820deli...
ENST00000259008.7:c.1473+3818_1473+3820delinsCAT MANE Select	ENSP00000259008.2:n.1473+3818_1473+3820de...
ENST00000259008.6:c.1473+3818_1473+3820delinsCAT	ENSP00000259008.2:n.1473+3818_1473+3820de...
ENST00000577598.5:c.1473+3818_1473+3820delinsCAT	ENSP00000464654.1:n.1473+3818_1473+3820de...
ENST00000579028.1:c.77+3818_77+3820delinsCAT
NM_032043.2:c.1473+3818_1473+3820delinsCAT , LRG_300t1:c.1473+3818_1473+3820delinsCAT	NP_114432.2:n.1473+3818_1473+3820delinsCA...
XM_011525332.1:c.1473+3818_1473+3820delinsCAT	XP_011523634.1:n.1473+3818_1473+3820delin...
XM_011525333.1:c.1473+3818_1473+3820delinsCAT	XP_011523635.1:n.1473+3818_1473+3820delin...
XM_011525334.1:c.1473+3818_1473+3820delinsCAT	XP_011523636.1:n.1473+3818_1473+3820delin...
XM_011525335.1:c.1473+3818_1473+3820delinsCAT	XP_011523637.1:n.1473+3818_1473+3820delin...
XM_011525336.1:c.1473+3818_1473+3820delinsCAT	XP_011523638.1:n.1473+3818_1473+3820delin...
XM_011525337.1:c.1473+3818_1473+3820delinsCAT	XP_011523639.1:n.1473+3818_1473+3820delin...
XM_011525338.1:c.990+3818_990+3820delinsCAT	XP_011523640.1:n.990+3818_990+3820delinsC...
XM_011525339.1:c.1473+3818_1473+3820delinsCAT	XP_011523641.1:n.1473+3818_1473+3820delin...
XM_011525340.1:c.1473+3818_1473+3820delinsCAT	XP_011523642.1:n.1473+3818_1473+3820delin...
XM_011525341.1:c.1473+3818_1473+3820delinsCAT	XP_011523643.1:n.1473+3818_1473+3820delin...
XM_011525332.3:c.1473+3818_1473+3820delinsCAT	XP_011523634.1:n.1473+3818_1473+3820delin...
XM_011525333.3:c.1473+3818_1473+3820delinsCAT	XP_011523635.1:n.1473+3818_1473+3820delin...
XM_011525334.2:c.1473+3818_1473+3820delinsCAT	XP_011523636.1:n.1473+3818_1473+3820delin...
XM_011525335.3:c.1473+3818_1473+3820delinsCAT	XP_011523637.1:n.1473+3818_1473+3820delin...
XM_011525336.2:c.1473+3818_1473+3820delinsCAT	XP_011523638.1:n.1473+3818_1473+3820delin...
XM_011525337.2:c.1473+3818_1473+3820delinsCAT	XP_011523639.1:n.1473+3818_1473+3820delin...
XM_011525338.2:c.990+3818_990+3820delinsCAT	XP_011523640.1:n.990+3818_990+3820delinsC...
XM_011525339.3:c.1473+3818_1473+3820delinsCAT	XP_011523641.1:n.1473+3818_1473+3820delin...
XM_011525340.3:c.1473+3818_1473+3820delinsCAT	XP_011523642.1:n.1473+3818_1473+3820delin...
XM_011525341.3:c.1473+3818_1473+3820delinsCAT	XP_011523643.1:n.1473+3818_1473+3820delin...
XM_017025200.1:c.990+3818_990+3820delinsCAT	XP_016880689.1:n.990+3818_990+3820delinsC...
XM_017025201.1:c.930+3818_930+3820delinsCAT	XP_016880690.1:n.930+3818_930+3820delinsC...
NM_032043.3:c.1473+3818_1473+3820delinsCAT MANE Select	NP_114432.2:n.1473+3818_1473+3820delinsCA...