Canonical Allele Identifier: CA2269131018

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683826_61683827delinsTA , CM000679.2:g.61683826_61683827delinsTA	GRCh38
NC_000017.10:g.59761187_59761188delinsTA , CM000679.1:g.59761187_59761188delinsTA	GRCh37
NC_000017.9:g.57115969_57115970delinsTA	NCBI36
NG_007409.2:g.184733_184734delinsTA , LRG_300:g.184733_184734delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1959_1960delinsTA
ENST00000682453.1:c.3219_3220delinsTA	ENSP00000506943.1:p.Ile1073=
ENST00000682477.1:c.*2645_*2646delinsTA	ENSP00000507075.1:n.*2645_*2646delinsTA
ENST00000682589.1:n.9096_9097delinsTA
ENST00000682755.1:c.2997_2998delinsTA	ENSP00000507660.1:p.Ile999=
ENST00000682989.1:c.*310_*311delinsTA	ENSP00000507786.1:n.*310_*311delinsTA
ENST00000683039.1:c.3219_3220delinsTA	ENSP00000508303.1:p.Ile1073=
ENST00000683235.1:c.*634_*635delinsTA	ENSP00000507646.1:n.*634_*635delinsTA
ENST00000683535.1:n.1349_1350delinsTA
ENST00000684584.1:c.2382_2383delinsTA	ENSP00000508044.1:p.Ile794=
ENST00000684626.1:n.1465_1466delinsTA
ENST00000684769.1:c.1409_1410delinsTA	ENSP00000507691.1:n.1409_1410delinsTA
ENST00000259008.7:c.3219_3220delinsTA MANE Select	ENSP00000259008.2:p.Ile1073=
ENST00000259008.6:c.3219_3220delinsTA	ENSP00000259008.2:p.Ile1073=
NM_032043.2:c.3219_3220delinsTA , LRG_300t1:c.3219_3220delinsTA	NP_114432.2:p.Ile1073=
XM_011525332.1:c.3279_3280delinsTA	XP_011523634.1:p.Ile1093=
XM_011525333.1:c.3279_3280delinsTA	XP_011523635.1:p.Ile1093=
XM_011525334.1:c.3279_3280delinsTA	XP_011523636.1:p.Ile1093=
XM_011525335.1:c.3219_3220delinsTA	XP_011523637.1:p.Ile1073=
XM_011525336.1:c.3159_3160delinsTA	XP_011523638.1:p.Ile1053=
XM_011525337.1:c.3078_3079delinsTA	XP_011523639.1:p.Ile1026=
XM_011525338.1:c.2796_2797delinsTA	XP_011523640.1:p.Ile932=
XM_011525332.3:c.3279_3280delinsTA	XP_011523634.1:p.Ile1093=
XM_011525333.3:c.3279_3280delinsTA	XP_011523635.1:p.Ile1093=
XM_011525334.2:c.3279_3280delinsTA	XP_011523636.1:p.Ile1093=
XM_011525335.3:c.3219_3220delinsTA	XP_011523637.1:p.Ile1073=
XM_011525336.2:c.3159_3160delinsTA	XP_011523638.1:p.Ile1053=
XM_011525337.2:c.3078_3079delinsTA	XP_011523639.1:p.Ile1026=
XM_011525338.2:c.2796_2797delinsTA	XP_011523640.1:p.Ile932=
XM_017025200.1:c.2736_2737delinsTA	XP_016880689.1:p.Ile912=
XM_017025201.1:c.2736_2737delinsTA	XP_016880690.1:p.Ile912=
XM_017025202.1:c.1365_1366delinsTA	XP_016880691.1:p.Ile455=
XM_017025203.1:c.1365_1366delinsTA	XP_016880692.1:p.Ile455=
NM_032043.3:c.3219_3220delinsTA MANE Select	NP_114432.2:p.Ile1073=