Canonical Allele Identifier: CA2269130918

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683669_61683672delinsTCTG , CM000679.2:g.61683669_61683672delinsTCTG	GRCh38
NC_000017.10:g.59761030_59761033delinsTCTG , CM000679.1:g.59761030_59761033delinsTCTG	GRCh37
NC_000017.9:g.57115812_57115815delinsTCTG	NCBI36
NG_007409.2:g.184888_184891delinsCAGA , LRG_300:g.184888_184891delinsCAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2114_2117delinsCAGA
ENST00000682453.1:c.3374_3377delinsCAGA	ENSP00000506943.1:p.Ala1125=
ENST00000682477.1:c.*2800_*2803delinsCAGA	ENSP00000507075.1:n.*2800_*2803delinsCAGA
ENST00000682589.1:n.9251_9254delinsCAGA
ENST00000682755.1:c.3152_3155delinsCAGA	ENSP00000507660.1:p.Ala1051=
ENST00000682989.1:c.*465_*468delinsCAGA	ENSP00000507786.1:n.*465_*468delinsCAGA
ENST00000683039.1:c.3374_3377delinsCAGA	ENSP00000508303.1:p.Ala1125=
ENST00000683235.1:c.*789_*792delinsCAGA	ENSP00000507646.1:n.*789_*792delinsCAGA
ENST00000683535.1:n.1504_1507delinsCAGA
ENST00000684584.1:c.2537_2540delinsCAGA	ENSP00000508044.1:p.Ala846=
ENST00000684626.1:n.1620_1623delinsCAGA
ENST00000684769.1:c.1564_1567delinsCAGA	ENSP00000507691.1:n.1564_1567delinsCAGA
ENST00000259008.7:c.3374_3377delinsCAGA MANE Select	ENSP00000259008.2:p.Ala1125=
ENST00000259008.6:c.3374_3377delinsCAGA	ENSP00000259008.2:p.Ala1125=
NM_032043.2:c.3374_3377delinsCAGA , LRG_300t1:c.3374_3377delinsCAGA	NP_114432.2:p.Ala1125=
XM_011525332.1:c.3434_3437delinsCAGA	XP_011523634.1:p.Ala1145=
XM_011525333.1:c.3434_3437delinsCAGA	XP_011523635.1:p.Ala1145=
XM_011525334.1:c.3434_3437delinsCAGA	XP_011523636.1:p.Ala1145=
XM_011525335.1:c.3374_3377delinsCAGA	XP_011523637.1:p.Ala1125=
XM_011525336.1:c.3314_3317delinsCAGA	XP_011523638.1:p.Ala1105=
XM_011525337.1:c.3233_3236delinsCAGA	XP_011523639.1:p.Ala1078=
XM_011525338.1:c.2951_2954delinsCAGA	XP_011523640.1:p.Ala984=
XM_011525332.3:c.3434_3437delinsCAGA	XP_011523634.1:p.Ala1145=
XM_011525333.3:c.3434_3437delinsCAGA	XP_011523635.1:p.Ala1145=
XM_011525334.2:c.3434_3437delinsCAGA	XP_011523636.1:p.Ala1145=
XM_011525335.3:c.3374_3377delinsCAGA	XP_011523637.1:p.Ala1125=
XM_011525336.2:c.3314_3317delinsCAGA	XP_011523638.1:p.Ala1105=
XM_011525337.2:c.3233_3236delinsCAGA	XP_011523639.1:p.Ala1078=
XM_011525338.2:c.2951_2954delinsCAGA	XP_011523640.1:p.Ala984=
XM_017025200.1:c.2891_2894delinsCAGA	XP_016880689.1:p.Ala964=
XM_017025201.1:c.2891_2894delinsCAGA	XP_016880690.1:p.Ala964=
XM_017025202.1:c.1520_1523delinsCAGA	XP_016880691.1:p.Ala507=
XM_017025203.1:c.1520_1523delinsCAGA	XP_016880692.1:p.Ala507=
NM_032043.3:c.3374_3377delinsCAGA MANE Select	NP_114432.2:p.Ala1125=