Canonical Allele Identifier: CA2269130921

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683674_61683676delinsTTC , CM000679.2:g.61683674_61683676delinsTTC	GRCh38
NC_000017.10:g.59761035_59761037delinsTTC , CM000679.1:g.59761035_59761037delinsTTC	GRCh37
NC_000017.9:g.57115817_57115819delinsTTC	NCBI36
NG_007409.2:g.184884_184886delinsGAA , LRG_300:g.184884_184886delinsGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2110_2112delinsGAA
ENST00000682453.1:c.3370_3372delinsGAA	ENSP00000506943.1:p.Glu1124=
ENST00000682477.1:c.*2796_*2798delinsGAA	ENSP00000507075.1:n.*2796_*2798delinsGAA
ENST00000682589.1:n.9247_9249delinsGAA
ENST00000682755.1:c.3148_3150delinsGAA	ENSP00000507660.1:p.Glu1050=
ENST00000682989.1:c.*461_*463delinsGAA	ENSP00000507786.1:n.*461_*463delinsGAA
ENST00000683039.1:c.3370_3372delinsGAA	ENSP00000508303.1:p.Glu1124=
ENST00000683235.1:c.*785_*787delinsGAA	ENSP00000507646.1:n.*785_*787delinsGAA
ENST00000683535.1:n.1500_1502delinsGAA
ENST00000684584.1:c.2533_2535delinsGAA	ENSP00000508044.1:p.Glu845=
ENST00000684626.1:n.1616_1618delinsGAA
ENST00000684769.1:c.1560_1562delinsGAA	ENSP00000507691.1:n.1560_1562delinsGAA
ENST00000259008.7:c.3370_3372delinsGAA MANE Select	ENSP00000259008.2:p.Glu1124=
ENST00000259008.6:c.3370_3372delinsGAA	ENSP00000259008.2:p.Glu1124=
NM_032043.2:c.3370_3372delinsGAA , LRG_300t1:c.3370_3372delinsGAA	NP_114432.2:p.Glu1124=
XM_011525332.1:c.3430_3432delinsGAA	XP_011523634.1:p.Glu1144=
XM_011525333.1:c.3430_3432delinsGAA	XP_011523635.1:p.Glu1144=
XM_011525334.1:c.3430_3432delinsGAA	XP_011523636.1:p.Glu1144=
XM_011525335.1:c.3370_3372delinsGAA	XP_011523637.1:p.Glu1124=
XM_011525336.1:c.3310_3312delinsGAA	XP_011523638.1:p.Glu1104=
XM_011525337.1:c.3229_3231delinsGAA	XP_011523639.1:p.Glu1077=
XM_011525338.1:c.2947_2949delinsGAA	XP_011523640.1:p.Glu983=
XM_011525332.3:c.3430_3432delinsGAA	XP_011523634.1:p.Glu1144=
XM_011525333.3:c.3430_3432delinsGAA	XP_011523635.1:p.Glu1144=
XM_011525334.2:c.3430_3432delinsGAA	XP_011523636.1:p.Glu1144=
XM_011525335.3:c.3370_3372delinsGAA	XP_011523637.1:p.Glu1124=
XM_011525336.2:c.3310_3312delinsGAA	XP_011523638.1:p.Glu1104=
XM_011525337.2:c.3229_3231delinsGAA	XP_011523639.1:p.Glu1077=
XM_011525338.2:c.2947_2949delinsGAA	XP_011523640.1:p.Glu983=
XM_017025200.1:c.2887_2889delinsGAA	XP_016880689.1:p.Glu963=
XM_017025201.1:c.2887_2889delinsGAA	XP_016880690.1:p.Glu963=
XM_017025202.1:c.1516_1518delinsGAA	XP_016880691.1:p.Glu506=
XM_017025203.1:c.1516_1518delinsGAA	XP_016880692.1:p.Glu506=
NM_032043.3:c.3370_3372delinsGAA MANE Select	NP_114432.2:p.Glu1124=