Canonical Allele Identifier: CA2580094486
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61780250_61780251del , CM000679.2:g.61780250_61780251del GRCh38
NC_000017.10:g.59857611_59857612del , CM000679.1:g.59857611_59857612del GRCh37
NC_000017.9:g.57212393_57212394del NCBI36
NG_007409.2:g.88310_88311del , LRG_300:g.88310_88311del

Transcript Alleles

HGVS Amino-acid Change
ENST00000579028.2:c.1517+11_1517+12del ENSP00000463827.2:n.1517+11_1517+12del
ENST00000584322.2:c.1935+11_1935+12del ENSP00000463272.2:n.1935+11_1935+12del
ENST00000682066.1:c.1428+11_1428+12del ENSP00000507191.1:n.1428+11_1428+12del
ENST00000682073.1:n.675+11_675+12del
ENST00000682453.1:c.1935+11_1935+12del ENSP00000506943.1:n.1935+11_1935+12del
ENST00000682477.1:c.*1361+11_*1361+12del ENSP00000507075.1:n.*1361+11_*1361+12del
ENST00000682589.1:n.4125_4126del
ENST00000682611.1:c.1428+11_1428+12del ENSP00000508326.1:n.1428+11_1428+12del
ENST00000682755.1:c.1713+11_1713+12del ENSP00000507660.1:n.1713+11_1713+12del
ENST00000682989.1:c.1935+11_1935+12del ENSP00000507786.1:n.1935+11_1935+12del
ENST00000683039.1:c.1935+11_1935+12del ENSP00000508303.1:n.1935+11_1935+12del
ENST00000683235.1:c.1935+11_1935+12del ENSP00000507646.1:n.1935+11_1935+12del
ENST00000683381.1:c.1935+11_1935+12del ENSP00000508184.1:n.1935+11_1935+12del
ENST00000684471.1:n.408+11_408+12del
ENST00000684584.1:c.1428+11_1428+12del ENSP00000508044.1:n.1428+11_1428+12del
ENST00000259008.7:c.1935+11_1935+12del MANE Select ENSP00000259008.2:n.1935+11_1935+12del
ENST00000259008.6:c.1935+11_1935+12del ENSP00000259008.2:n.1935+11_1935+12del
ENST00000577598.5:c.1935+11_1935+12del ENSP00000464654.1:n.1935+11_1935+12del
ENST00000579028.1:c.628+11_628+12del
ENST00000583837.5:n.17+11_17+12del
NM_032043.2:c.1935+11_1935+12del , LRG_300t1:c.1935+11_1935+12del NP_114432.2:n.1935+11_1935+12del
XM_011525332.1:c.1935+11_1935+12del XP_011523634.1:n.1935+11_1935+12del
XM_011525333.1:c.1935+11_1935+12del XP_011523635.1:n.1935+11_1935+12del
XM_011525334.1:c.1935+11_1935+12del XP_011523636.1:n.1935+11_1935+12del
XM_011525335.1:c.1935+11_1935+12del XP_011523637.1:n.1935+11_1935+12del
XM_011525336.1:c.1935+11_1935+12del XP_011523638.1:n.1935+11_1935+12del
XM_011525337.1:c.1794+590_1794+591del XP_011523639.1:n.1794+590_1794+591del
XM_011525338.1:c.1452+11_1452+12del XP_011523640.1:n.1452+11_1452+12del
XM_011525339.1:c.1935+11_1935+12del XP_011523641.1:n.1935+11_1935+12del
XM_011525340.1:c.1935+11_1935+12del XP_011523642.1:n.1935+11_1935+12del
XM_011525341.1:c.1935+11_1935+12del XP_011523643.1:n.1935+11_1935+12del
XM_011525332.3:c.1935+11_1935+12del XP_011523634.1:n.1935+11_1935+12del
XM_011525333.3:c.1935+11_1935+12del XP_011523635.1:n.1935+11_1935+12del
XM_011525334.2:c.1935+11_1935+12del XP_011523636.1:n.1935+11_1935+12del
XM_011525335.3:c.1935+11_1935+12del XP_011523637.1:n.1935+11_1935+12del
XM_011525336.2:c.1935+11_1935+12del XP_011523638.1:n.1935+11_1935+12del
XM_011525337.2:c.1794+590_1794+591del XP_011523639.1:n.1794+590_1794+591del
XM_011525338.2:c.1452+11_1452+12del XP_011523640.1:n.1452+11_1452+12del
XM_011525339.3:c.1935+11_1935+12del XP_011523641.1:n.1935+11_1935+12del
XM_011525340.3:c.1935+11_1935+12del XP_011523642.1:n.1935+11_1935+12del
XM_011525341.3:c.1935+11_1935+12del XP_011523643.1:n.1935+11_1935+12del
XM_017025200.1:c.1452+11_1452+12del XP_016880689.1:n.1452+11_1452+12del
XM_017025201.1:c.1392+11_1392+12del XP_016880690.1:n.1392+11_1392+12del
XM_017025203.1:c.-26+11_-26+12del XP_016880692.1:n.-26+11_-26+12del
NM_032043.3:c.1935+11_1935+12del MANE Select NP_114432.2:n.1935+11_1935+12del