Canonical Allele Identifier: CA2269130979

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683768_61683769delinsAG , CM000679.2:g.61683768_61683769delinsAG	GRCh38
NC_000017.10:g.59761129_59761130delinsAG , CM000679.1:g.59761129_59761130delinsAG	GRCh37
NC_000017.9:g.57115911_57115912delinsAG	NCBI36
NG_007409.2:g.184791_184792delinsCT , LRG_300:g.184791_184792delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2017_2018delinsCT
ENST00000682453.1:c.3277_3278delinsCT	ENSP00000506943.1:p.Leu1093=
ENST00000682477.1:c.*2703_*2704delinsCT	ENSP00000507075.1:n.*2703_*2704delinsCT
ENST00000682589.1:n.9154_9155delinsCT
ENST00000682755.1:c.3055_3056delinsCT	ENSP00000507660.1:p.Leu1019=
ENST00000682989.1:c.*368_*369delinsCT	ENSP00000507786.1:n.*368_*369delinsCT
ENST00000683039.1:c.3277_3278delinsCT	ENSP00000508303.1:p.Leu1093=
ENST00000683235.1:c.*692_*693delinsCT	ENSP00000507646.1:n.*692_*693delinsCT
ENST00000683535.1:n.1407_1408delinsCT
ENST00000684584.1:c.2440_2441delinsCT	ENSP00000508044.1:p.Leu814=
ENST00000684626.1:n.1523_1524delinsCT
ENST00000684769.1:c.1467_1468delinsCT	ENSP00000507691.1:n.1467_1468delinsCT
ENST00000259008.7:c.3277_3278delinsCT MANE Select	ENSP00000259008.2:p.Leu1093=
ENST00000259008.6:c.3277_3278delinsCT	ENSP00000259008.2:p.Leu1093=
NM_032043.2:c.3277_3278delinsCT , LRG_300t1:c.3277_3278delinsCT	NP_114432.2:p.Leu1093=
XM_011525332.1:c.3337_3338delinsCT	XP_011523634.1:p.Leu1113=
XM_011525333.1:c.3337_3338delinsCT	XP_011523635.1:p.Leu1113=
XM_011525334.1:c.3337_3338delinsCT	XP_011523636.1:p.Leu1113=
XM_011525335.1:c.3277_3278delinsCT	XP_011523637.1:p.Leu1093=
XM_011525336.1:c.3217_3218delinsCT	XP_011523638.1:p.Leu1073=
XM_011525337.1:c.3136_3137delinsCT	XP_011523639.1:p.Leu1046=
XM_011525338.1:c.2854_2855delinsCT	XP_011523640.1:p.Leu952=
XM_011525332.3:c.3337_3338delinsCT	XP_011523634.1:p.Leu1113=
XM_011525333.3:c.3337_3338delinsCT	XP_011523635.1:p.Leu1113=
XM_011525334.2:c.3337_3338delinsCT	XP_011523636.1:p.Leu1113=
XM_011525335.3:c.3277_3278delinsCT	XP_011523637.1:p.Leu1093=
XM_011525336.2:c.3217_3218delinsCT	XP_011523638.1:p.Leu1073=
XM_011525337.2:c.3136_3137delinsCT	XP_011523639.1:p.Leu1046=
XM_011525338.2:c.2854_2855delinsCT	XP_011523640.1:p.Leu952=
XM_017025200.1:c.2794_2795delinsCT	XP_016880689.1:p.Leu932=
XM_017025201.1:c.2794_2795delinsCT	XP_016880690.1:p.Leu932=
XM_017025202.1:c.1423_1424delinsCT	XP_016880691.1:p.Leu475=
XM_017025203.1:c.1423_1424delinsCT	XP_016880692.1:p.Leu475=
NM_032043.3:c.3277_3278delinsCT MANE Select	NP_114432.2:p.Leu1093=