Canonical Allele Identifier: CA2269178673
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61799188_61799210delinsCAAACCGAAGCTGAACTTCTGTT , CM000679.2:g.61799188_61799210delinsCAAACCGAAGCTGAACTTCTGTT GRCh38
NC_000017.10:g.59876549_59876571delinsCAAACCGAAGCTGAACTTCTGTT , CM000679.1:g.59876549_59876571delinsCAAACCGAAGCTGAACTTCTGTT GRCh37
NC_000017.9:g.57231331_57231353delinsCAAACCGAAGCTGAACTTCTGTT NCBI36
NG_007409.2:g.69350_69372delinsAACAGAAGTTCAGCTTCGGTTTG , LRG_300:g.69350_69372delinsAACAGAAGTTCAGCTTCGGTTTG

Transcript Alleles

HGVS Amino-acid change
ENST00000579028.2:c.723_745delinsAACAGAAGTTCAGCTTCGGTTTG ENSP00000463827.2:p.Val241=
ENST00000584322.2:c.1230_1252delinsAACAGAAGTTCAGCTTCGGTTTG ENSP00000463272.2:p.Val410=
ENST00000682066.1:c.723_745delinsAACAGAAGTTCAGCTTCGGTTTG ENSP00000507191.1:p.Val241=
ENST00000682453.1:c.1230_1252delinsAACAGAAGTTCAGCTTCGGTTTG ENSP00000506943.1:p.Val410=
ENST00000682477.1:c.1230_1252delinsAACAGAAGTTCAGCTTCGGTTTG ENSP00000507075.1:p.Val410=
ENST00000682589.1:n.2971_2993delinsAACAGAAGTTCAGCTTCGGTTTG
ENST00000682611.1:c.723_745delinsAACAGAAGTTCAGCTTCGGTTTG ENSP00000508326.1:p.Val241=
ENST00000682755.1:c.1008_1030delinsAACAGAAGTTCAGCTTCGGTTTG ENSP00000507660.1:p.Val336=
ENST00000682989.1:c.1230_1252delinsAACAGAAGTTCAGCTTCGGTTTG ENSP00000507786.1:p.Val410=
ENST00000683039.1:c.1230_1252delinsAACAGAAGTTCAGCTTCGGTTTG ENSP00000508303.1:p.Val410=
ENST00000683235.1:c.1230_1252delinsAACAGAAGTTCAGCTTCGGTTTG ENSP00000507646.1:p.Val410=
ENST00000683381.1:c.1230_1252delinsAACAGAAGTTCAGCTTCGGTTTG ENSP00000508184.1:p.Val410=
ENST00000683692.1:c.808_830delinsAACAGAAGTTCAGCTTCGGTTTG ENSP00000507964.1:n.808_830delinsAACAGAAG...
ENST00000684584.1:c.723_745delinsAACAGAAGTTCAGCTTCGGTTTG ENSP00000508044.1:p.Val241=
ENST00000259008.7:c.1230_1252delinsAACAGAAGTTCAGCTTCGGTTTG MANE Select ENSP00000259008.2:p.Val410=
ENST00000259008.6:c.1230_1252delinsAACAGAAGTTCAGCTTCGGTTTG ENSP00000259008.2:p.Val410=
ENST00000577598.5:c.1230_1252delinsAACAGAAGTTCAGCTTCGGTTTG ENSP00000464654.1:p.Val410=
NM_032043.2:c.1230_1252delinsAACAGAAGTTCAGCTTCGGTTTG , LRG_300t1:c.1230_1252delinsAACAGAAGTTCAGCTTCGGTTTG NP_114432.2:p.Val410=
XM_011525332.1:c.1230_1252delinsAACAGAAGTTCAGCTTCGGTTTG XP_011523634.1:p.Val410=
XM_011525333.1:c.1230_1252delinsAACAGAAGTTCAGCTTCGGTTTG XP_011523635.1:p.Val410=
XM_011525334.1:c.1230_1252delinsAACAGAAGTTCAGCTTCGGTTTG XP_011523636.1:p.Val410=
XM_011525335.1:c.1230_1252delinsAACAGAAGTTCAGCTTCGGTTTG XP_011523637.1:p.Val410=
XM_011525336.1:c.1230_1252delinsAACAGAAGTTCAGCTTCGGTTTG XP_011523638.1:p.Val410=
XM_011525337.1:c.1230_1252delinsAACAGAAGTTCAGCTTCGGTTTG XP_011523639.1:p.Val410=
XM_011525338.1:c.747_769delinsAACAGAAGTTCAGCTTCGGTTTG XP_011523640.1:p.Val249=
XM_011525339.1:c.1230_1252delinsAACAGAAGTTCAGCTTCGGTTTG XP_011523641.1:p.Val410=
XM_011525340.1:c.1230_1252delinsAACAGAAGTTCAGCTTCGGTTTG XP_011523642.1:p.Val410=
XM_011525341.1:c.1230_1252delinsAACAGAAGTTCAGCTTCGGTTTG XP_011523643.1:p.Val410=
XM_011525332.3:c.1230_1252delinsAACAGAAGTTCAGCTTCGGTTTG XP_011523634.1:p.Val410=
XM_011525333.3:c.1230_1252delinsAACAGAAGTTCAGCTTCGGTTTG XP_011523635.1:p.Val410=
XM_011525334.2:c.1230_1252delinsAACAGAAGTTCAGCTTCGGTTTG XP_011523636.1:p.Val410=
XM_011525335.3:c.1230_1252delinsAACAGAAGTTCAGCTTCGGTTTG XP_011523637.1:p.Val410=
XM_011525336.2:c.1230_1252delinsAACAGAAGTTCAGCTTCGGTTTG XP_011523638.1:p.Val410=
XM_011525337.2:c.1230_1252delinsAACAGAAGTTCAGCTTCGGTTTG XP_011523639.1:p.Val410=
XM_011525338.2:c.747_769delinsAACAGAAGTTCAGCTTCGGTTTG XP_011523640.1:p.Val249=
XM_011525339.3:c.1230_1252delinsAACAGAAGTTCAGCTTCGGTTTG XP_011523641.1:p.Val410=
XM_011525340.3:c.1230_1252delinsAACAGAAGTTCAGCTTCGGTTTG XP_011523642.1:p.Val410=
XM_011525341.3:c.1230_1252delinsAACAGAAGTTCAGCTTCGGTTTG XP_011523643.1:p.Val410=
XM_017025200.1:c.747_769delinsAACAGAAGTTCAGCTTCGGTTTG XP_016880689.1:p.Val249=
XM_017025201.1:c.687_709delinsAACAGAAGTTCAGCTTCGGTTTG XP_016880690.1:p.Val229=
NM_032043.3:c.1230_1252delinsAACAGAAGTTCAGCTTCGGTTTG MANE Select NP_114432.2:p.Val410=