Canonical Allele Identifier: CA2580094497
Gene: BRIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1713216
ClinVar RCV Id: RCV003156011

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61799216_61799217insA , CM000679.2:g.61799216_61799217insA GRCh38
NC_000017.10:g.59876577_59876578insA , CM000679.1:g.59876577_59876578insA GRCh37
NC_000017.9:g.57231359_57231360insA NCBI36
NG_007409.2:g.69343_69344insT , LRG_300:g.69343_69344insT

Transcript Alleles

HGVS Amino-acid change
ENST00000579028.2:c.716_717insT ENSP00000463827.2:p.Ser240GlnfsTer13
ENST00000584322.2:c.1223_1224insT ENSP00000463272.2:p.Ser409GlnfsTer13
ENST00000682066.1:c.716_717insT ENSP00000507191.1:p.Ser240GlnfsTer13
ENST00000682453.1:c.1223_1224insT ENSP00000506943.1:p.Ser409GlnfsTer13
ENST00000682477.1:c.1223_1224insT ENSP00000507075.1:p.Ser409GlnfsTer13
ENST00000682589.1:n.2964_2965insT
ENST00000682611.1:c.716_717insT ENSP00000508326.1:p.Ser240GlnfsTer13
ENST00000682755.1:c.1001_1002insT ENSP00000507660.1:p.Ser335GlnfsTer13
ENST00000682989.1:c.1223_1224insT ENSP00000507786.1:p.Ser409GlnfsTer13
ENST00000683039.1:c.1223_1224insT ENSP00000508303.1:p.Ser409GlnfsTer13
ENST00000683235.1:c.1223_1224insT ENSP00000507646.1:p.Ser409GlnfsTer13
ENST00000683381.1:c.1223_1224insT ENSP00000508184.1:p.Ser409GlnfsTer13
ENST00000683692.1:c.801_802insT ENSP00000507964.1:n.801_802insT
ENST00000684584.1:c.716_717insT ENSP00000508044.1:p.Ser240GlnfsTer13
ENST00000259008.7:c.1223_1224insT MANE Select ENSP00000259008.2:p.Ser409GlnfsTer13
ENST00000259008.6:c.1223_1224insT ENSP00000259008.2:p.Ser409GlnfsTer13
ENST00000577598.5:c.1223_1224insT ENSP00000464654.1:p.Ser409GlnfsTer13
NM_032043.2:c.1223_1224insT , LRG_300t1:c.1223_1224insT NP_114432.2:p.Ser409GlnfsTer13
XM_011525332.1:c.1223_1224insT XP_011523634.1:p.Ser409GlnfsTer13
XM_011525333.1:c.1223_1224insT XP_011523635.1:p.Ser409GlnfsTer13
XM_011525334.1:c.1223_1224insT XP_011523636.1:p.Ser409GlnfsTer13
XM_011525335.1:c.1223_1224insT XP_011523637.1:p.Ser409GlnfsTer13
XM_011525336.1:c.1223_1224insT XP_011523638.1:p.Ser409GlnfsTer13
XM_011525337.1:c.1223_1224insT XP_011523639.1:p.Ser409GlnfsTer13
XM_011525338.1:c.740_741insT XP_011523640.1:p.Ser248GlnfsTer13
XM_011525339.1:c.1223_1224insT XP_011523641.1:p.Ser409GlnfsTer13
XM_011525340.1:c.1223_1224insT XP_011523642.1:p.Ser409GlnfsTer13
XM_011525341.1:c.1223_1224insT XP_011523643.1:p.Ser409GlnfsTer13
XM_011525332.3:c.1223_1224insT XP_011523634.1:p.Ser409GlnfsTer13
XM_011525333.3:c.1223_1224insT XP_011523635.1:p.Ser409GlnfsTer13
XM_011525334.2:c.1223_1224insT XP_011523636.1:p.Ser409GlnfsTer13
XM_011525335.3:c.1223_1224insT XP_011523637.1:p.Ser409GlnfsTer13
XM_011525336.2:c.1223_1224insT XP_011523638.1:p.Ser409GlnfsTer13
XM_011525337.2:c.1223_1224insT XP_011523639.1:p.Ser409GlnfsTer13
XM_011525338.2:c.740_741insT XP_011523640.1:p.Ser248GlnfsTer13
XM_011525339.3:c.1223_1224insT XP_011523641.1:p.Ser409GlnfsTer13
XM_011525340.3:c.1223_1224insT XP_011523642.1:p.Ser409GlnfsTer13
XM_011525341.3:c.1223_1224insT XP_011523643.1:p.Ser409GlnfsTer13
XM_017025200.1:c.740_741insT XP_016880689.1:p.Ser248GlnfsTer13
XM_017025201.1:c.680_681insT XP_016880690.1:p.Ser228GlnfsTer13
NM_032043.3:c.1223_1224insT MANE Select NP_114432.2:p.Ser409GlnfsTer13