Canonical Allele Identifier: CA2269178684
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61799203_61799204delinsCT , CM000679.2:g.61799203_61799204delinsCT GRCh38
NC_000017.10:g.59876564_59876565delinsCT , CM000679.1:g.59876564_59876565delinsCT GRCh37
NC_000017.9:g.57231346_57231347delinsCT NCBI36
NG_007409.2:g.69356_69357delinsAG , LRG_300:g.69356_69357delinsAG

Transcript Alleles

HGVS Amino-acid change
ENST00000579028.2:c.729_730delinsAG ENSP00000463827.2:p.Glu243=
ENST00000584322.2:c.1236_1237delinsAG ENSP00000463272.2:p.Glu412=
ENST00000682066.1:c.729_730delinsAG ENSP00000507191.1:p.Glu243=
ENST00000682453.1:c.1236_1237delinsAG ENSP00000506943.1:p.Glu412=
ENST00000682477.1:c.1236_1237delinsAG ENSP00000507075.1:p.Glu412=
ENST00000682589.1:n.2977_2978delinsAG
ENST00000682611.1:c.729_730delinsAG ENSP00000508326.1:p.Glu243=
ENST00000682755.1:c.1014_1015delinsAG ENSP00000507660.1:p.Glu338=
ENST00000682989.1:c.1236_1237delinsAG ENSP00000507786.1:p.Glu412=
ENST00000683039.1:c.1236_1237delinsAG ENSP00000508303.1:p.Glu412=
ENST00000683235.1:c.1236_1237delinsAG ENSP00000507646.1:p.Glu412=
ENST00000683381.1:c.1236_1237delinsAG ENSP00000508184.1:p.Glu412=
ENST00000683692.1:c.814_815delinsAG ENSP00000507964.1:n.814_815delinsAG
ENST00000684584.1:c.729_730delinsAG ENSP00000508044.1:p.Glu243=
ENST00000259008.7:c.1236_1237delinsAG MANE Select ENSP00000259008.2:p.Glu412=
ENST00000259008.6:c.1236_1237delinsAG ENSP00000259008.2:p.Glu412=
ENST00000577598.5:c.1236_1237delinsAG ENSP00000464654.1:p.Glu412=
NM_032043.2:c.1236_1237delinsAG , LRG_300t1:c.1236_1237delinsAG NP_114432.2:p.Glu412=
XM_011525332.1:c.1236_1237delinsAG XP_011523634.1:p.Glu412=
XM_011525333.1:c.1236_1237delinsAG XP_011523635.1:p.Glu412=
XM_011525334.1:c.1236_1237delinsAG XP_011523636.1:p.Glu412=
XM_011525335.1:c.1236_1237delinsAG XP_011523637.1:p.Glu412=
XM_011525336.1:c.1236_1237delinsAG XP_011523638.1:p.Glu412=
XM_011525337.1:c.1236_1237delinsAG XP_011523639.1:p.Glu412=
XM_011525338.1:c.753_754delinsAG XP_011523640.1:p.Glu251=
XM_011525339.1:c.1236_1237delinsAG XP_011523641.1:p.Glu412=
XM_011525340.1:c.1236_1237delinsAG XP_011523642.1:p.Glu412=
XM_011525341.1:c.1236_1237delinsAG XP_011523643.1:p.Glu412=
XM_011525332.3:c.1236_1237delinsAG XP_011523634.1:p.Glu412=
XM_011525333.3:c.1236_1237delinsAG XP_011523635.1:p.Glu412=
XM_011525334.2:c.1236_1237delinsAG XP_011523636.1:p.Glu412=
XM_011525335.3:c.1236_1237delinsAG XP_011523637.1:p.Glu412=
XM_011525336.2:c.1236_1237delinsAG XP_011523638.1:p.Glu412=
XM_011525337.2:c.1236_1237delinsAG XP_011523639.1:p.Glu412=
XM_011525338.2:c.753_754delinsAG XP_011523640.1:p.Glu251=
XM_011525339.3:c.1236_1237delinsAG XP_011523641.1:p.Glu412=
XM_011525340.3:c.1236_1237delinsAG XP_011523642.1:p.Glu412=
XM_011525341.3:c.1236_1237delinsAG XP_011523643.1:p.Glu412=
XM_017025200.1:c.753_754delinsAG XP_016880689.1:p.Glu251=
XM_017025201.1:c.693_694delinsAG XP_016880690.1:p.Glu231=
NM_032043.3:c.1236_1237delinsAG MANE Select NP_114432.2:p.Glu412=