Canonical Allele Identifier: CA2269130924
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683686_61683688delinsATC , CM000679.2:g.61683686_61683688delinsATC GRCh38
NC_000017.10:g.59761047_59761049delinsATC , CM000679.1:g.59761047_59761049delinsATC GRCh37
NC_000017.9:g.57115829_57115831delinsATC NCBI36
NG_007409.2:g.184872_184874delinsGAT , LRG_300:g.184872_184874delinsGAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.2098_2100delinsGAT
ENST00000682453.1:c.3358_3360delinsGAT ENSP00000506943.1:p.Asp1120=
ENST00000682477.1:c.*2784_*2786delinsGAT ENSP00000507075.1:n.*2784_*2786delinsGAT
ENST00000682589.1:n.9235_9237delinsGAT
ENST00000682755.1:c.3136_3138delinsGAT ENSP00000507660.1:p.Asp1046=
ENST00000682989.1:c.*449_*451delinsGAT ENSP00000507786.1:n.*449_*451delinsGAT
ENST00000683039.1:c.3358_3360delinsGAT ENSP00000508303.1:p.Asp1120=
ENST00000683235.1:c.*773_*775delinsGAT ENSP00000507646.1:n.*773_*775delinsGAT
ENST00000683535.1:n.1488_1490delinsGAT
ENST00000684584.1:c.2521_2523delinsGAT ENSP00000508044.1:p.Asp841=
ENST00000684626.1:n.1604_1606delinsGAT
ENST00000684769.1:c.1548_1550delinsGAT ENSP00000507691.1:n.1548_1550delinsGAT
ENST00000259008.7:c.3358_3360delinsGAT MANE Select ENSP00000259008.2:p.Asp1120=
ENST00000259008.6:c.3358_3360delinsGAT ENSP00000259008.2:p.Asp1120=
NM_032043.2:c.3358_3360delinsGAT , LRG_300t1:c.3358_3360delinsGAT NP_114432.2:p.Asp1120=
XM_011525332.1:c.3418_3420delinsGAT XP_011523634.1:p.Asp1140=
XM_011525333.1:c.3418_3420delinsGAT XP_011523635.1:p.Asp1140=
XM_011525334.1:c.3418_3420delinsGAT XP_011523636.1:p.Asp1140=
XM_011525335.1:c.3358_3360delinsGAT XP_011523637.1:p.Asp1120=
XM_011525336.1:c.3298_3300delinsGAT XP_011523638.1:p.Asp1100=
XM_011525337.1:c.3217_3219delinsGAT XP_011523639.1:p.Asp1073=
XM_011525338.1:c.2935_2937delinsGAT XP_011523640.1:p.Asp979=
XM_011525332.3:c.3418_3420delinsGAT XP_011523634.1:p.Asp1140=
XM_011525333.3:c.3418_3420delinsGAT XP_011523635.1:p.Asp1140=
XM_011525334.2:c.3418_3420delinsGAT XP_011523636.1:p.Asp1140=
XM_011525335.3:c.3358_3360delinsGAT XP_011523637.1:p.Asp1120=
XM_011525336.2:c.3298_3300delinsGAT XP_011523638.1:p.Asp1100=
XM_011525337.2:c.3217_3219delinsGAT XP_011523639.1:p.Asp1073=
XM_011525338.2:c.2935_2937delinsGAT XP_011523640.1:p.Asp979=
XM_017025200.1:c.2875_2877delinsGAT XP_016880689.1:p.Asp959=
XM_017025201.1:c.2875_2877delinsGAT XP_016880690.1:p.Asp959=
XM_017025202.1:c.1504_1506delinsGAT XP_016880691.1:p.Asp502=
XM_017025203.1:c.1504_1506delinsGAT XP_016880692.1:p.Asp502=
NM_032043.3:c.3358_3360delinsGAT MANE Select NP_114432.2:p.Asp1120=