Canonical Allele Identifier: CA2269130908
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683652_61683656delinsAATAG , CM000679.2:g.61683652_61683656delinsAATAG GRCh38
NC_000017.10:g.59761013_59761017delinsAATAG , CM000679.1:g.59761013_59761017delinsAATAG GRCh37
NC_000017.9:g.57115795_57115799delinsAATAG NCBI36
NG_007409.2:g.184904_184908delinsCTATT , LRG_300:g.184904_184908delinsCTATT

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.2130_2134delinsCTATT
ENST00000682453.1:c.3390_3394delinsCTATT ENSP00000506943.1:p.Ile1130=
ENST00000682477.1:c.*2816_*2820delinsCTATT ENSP00000507075.1:n.*2816_*2820delinsCTATT
ENST00000682589.1:n.9267_9271delinsCTATT
ENST00000682755.1:c.3168_3172delinsCTATT ENSP00000507660.1:p.Ile1056=
ENST00000682989.1:c.*481_*485delinsCTATT ENSP00000507786.1:n.*481_*485delinsCTATT
ENST00000683039.1:c.3390_3394delinsCTATT ENSP00000508303.1:p.Ile1130=
ENST00000683235.1:c.*805_*809delinsCTATT ENSP00000507646.1:n.*805_*809delinsCTATT
ENST00000683535.1:n.1520_1524delinsCTATT
ENST00000684584.1:c.2553_2557delinsCTATT ENSP00000508044.1:p.Ile851=
ENST00000684626.1:n.1636_1640delinsCTATT
ENST00000684769.1:c.1580_1584delinsCTATT ENSP00000507691.1:n.1580_1584delinsCTATT
ENST00000259008.7:c.3390_3394delinsCTATT MANE Select ENSP00000259008.2:p.Ile1130=
ENST00000259008.6:c.3390_3394delinsCTATT ENSP00000259008.2:p.Ile1130=
NM_032043.2:c.3390_3394delinsCTATT , LRG_300t1:c.3390_3394delinsCTATT NP_114432.2:p.Ile1130=
XM_011525332.1:c.3450_3454delinsCTATT XP_011523634.1:p.Ile1150=
XM_011525333.1:c.3450_3454delinsCTATT XP_011523635.1:p.Ile1150=
XM_011525334.1:c.3450_3454delinsCTATT XP_011523636.1:p.Ile1150=
XM_011525335.1:c.3390_3394delinsCTATT XP_011523637.1:p.Ile1130=
XM_011525336.1:c.3330_3334delinsCTATT XP_011523638.1:p.Ile1110=
XM_011525337.1:c.3249_3253delinsCTATT XP_011523639.1:p.Ile1083=
XM_011525338.1:c.2967_2971delinsCTATT XP_011523640.1:p.Ile989=
XM_011525332.3:c.3450_3454delinsCTATT XP_011523634.1:p.Ile1150=
XM_011525333.3:c.3450_3454delinsCTATT XP_011523635.1:p.Ile1150=
XM_011525334.2:c.3450_3454delinsCTATT XP_011523636.1:p.Ile1150=
XM_011525335.3:c.3390_3394delinsCTATT XP_011523637.1:p.Ile1130=
XM_011525336.2:c.3330_3334delinsCTATT XP_011523638.1:p.Ile1110=
XM_011525337.2:c.3249_3253delinsCTATT XP_011523639.1:p.Ile1083=
XM_011525338.2:c.2967_2971delinsCTATT XP_011523640.1:p.Ile989=
XM_017025200.1:c.2907_2911delinsCTATT XP_016880689.1:p.Ile969=
XM_017025201.1:c.2907_2911delinsCTATT XP_016880690.1:p.Ile969=
XM_017025202.1:c.1536_1540delinsCTATT XP_016880691.1:p.Ile512=
XM_017025203.1:c.1536_1540delinsCTATT XP_016880692.1:p.Ile512=
NM_032043.3:c.3390_3394delinsCTATT MANE Select NP_114432.2:p.Ile1130=