Canonical Allele Identifier: CA2269198533
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61847151_61847152delinsCA , CM000679.2:g.61847151_61847152delinsCA GRCh38
NC_000017.10:g.59924512_59924513delinsCA , CM000679.1:g.59924512_59924513delinsCA GRCh37
NC_000017.9:g.57279294_57279295delinsCA NCBI36
NG_007409.2:g.21408_21409delinsTG , LRG_300:g.21408_21409delinsTG

Transcript Alleles

HGVS Amino-acid change
ENST00000577913.2:c.576_577delinsTG ENSP00000462274.2:p.Thr192=
ENST00000579028.2:c.69_70delinsTG ENSP00000463827.2:p.Thr23=
ENST00000584322.2:c.576_577delinsTG ENSP00000463272.2:p.Thr192=
ENST00000682066.1:c.69_70delinsTG ENSP00000507191.1:p.Thr23=
ENST00000682369.1:c.576_577delinsTG ENSP00000507450.1:p.Thr192=
ENST00000682453.1:c.576_577delinsTG ENSP00000506943.1:p.Thr192=
ENST00000682477.1:c.576_577delinsTG ENSP00000507075.1:p.Thr192=
ENST00000682589.1:n.2317_2318delinsTG
ENST00000682611.1:c.69_70delinsTG ENSP00000508326.1:p.Thr23=
ENST00000682755.1:c.576_577delinsTG ENSP00000507660.1:p.Thr192=
ENST00000682989.1:c.576_577delinsTG ENSP00000507786.1:p.Thr192=
ENST00000683039.1:c.576_577delinsTG ENSP00000508303.1:p.Thr192=
ENST00000683235.1:c.576_577delinsTG ENSP00000507646.1:p.Thr192=
ENST00000683381.1:c.576_577delinsTG ENSP00000508184.1:p.Thr192=
ENST00000683672.1:c.*64_*65delinsTG ENSP00000506781.1:n.*64_*65delinsTG
ENST00000683692.1:c.69_70delinsTG ENSP00000507964.1:p.Thr23=
ENST00000684584.1:c.69_70delinsTG ENSP00000508044.1:p.Thr23=
ENST00000259008.7:c.576_577delinsTG MANE Select ENSP00000259008.2:p.Thr192=
ENST00000259008.6:c.576_577delinsTG ENSP00000259008.2:p.Thr192=
ENST00000577598.5:c.576_577delinsTG ENSP00000464654.1:p.Thr192=
NM_032043.2:c.576_577delinsTG , LRG_300t1:c.576_577delinsTG NP_114432.2:p.Thr192=
XM_011525332.1:c.576_577delinsTG XP_011523634.1:p.Thr192=
XM_011525333.1:c.576_577delinsTG XP_011523635.1:p.Thr192=
XM_011525334.1:c.576_577delinsTG XP_011523636.1:p.Thr192=
XM_011525335.1:c.576_577delinsTG XP_011523637.1:p.Thr192=
XM_011525336.1:c.576_577delinsTG XP_011523638.1:p.Thr192=
XM_011525337.1:c.576_577delinsTG XP_011523639.1:p.Thr192=
XM_011525338.1:c.93_94delinsTG XP_011523640.1:p.Thr31=
XM_011525339.1:c.576_577delinsTG XP_011523641.1:p.Thr192=
XM_011525340.1:c.576_577delinsTG XP_011523642.1:p.Thr192=
XM_011525341.1:c.576_577delinsTG XP_011523643.1:p.Thr192=
XM_011525332.3:c.576_577delinsTG XP_011523634.1:p.Thr192=
XM_011525333.3:c.576_577delinsTG XP_011523635.1:p.Thr192=
XM_011525334.2:c.576_577delinsTG XP_011523636.1:p.Thr192=
XM_011525335.3:c.576_577delinsTG XP_011523637.1:p.Thr192=
XM_011525336.2:c.576_577delinsTG XP_011523638.1:p.Thr192=
XM_011525337.2:c.576_577delinsTG XP_011523639.1:p.Thr192=
XM_011525338.2:c.93_94delinsTG XP_011523640.1:p.Thr31=
XM_011525339.3:c.576_577delinsTG XP_011523641.1:p.Thr192=
XM_011525340.3:c.576_577delinsTG XP_011523642.1:p.Thr192=
XM_011525341.3:c.576_577delinsTG XP_011523643.1:p.Thr192=
XM_017025200.1:c.93_94delinsTG XP_016880689.1:p.Thr31=
NM_032043.3:c.576_577delinsTG MANE Select NP_114432.2:p.Thr192=