Canonical Allele Identifier: CA298934
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61744434_61744435del , CM000679.2:g.61744434_61744435del GRCh38
NC_000017.10:g.59821795_59821796del , CM000679.1:g.59821795_59821796del GRCh37
NC_000017.9:g.57176577_57176578del NCBI36
NG_007409.2:g.124126_124127del , LRG_300:g.124126_124127del

Transcript Alleles

HGVS Amino-acid Change
NM_032043.3:c.2255_2256del MANE Select NP_114432.2:p.Lys752ArgfsTer12
ENST00000259008.7:c.2255_2256del MANE Select ENSP00000259008.2:p.Lys752ArgfsTer12
NM_032043.2:c.2255_2256del , LRG_300t1:c.2255_2256del NP_114432.2:p.Lys752ArgfsTer12
ENST00000259008.6:c.2255_2256del ENSP00000259008.2:p.Lys752ArgfsTer12
ENST00000577598.5:c.2255_2256del ENSP00000464654.1:p.Lys752ArgfsTer12
ENST00000579028.2:c.1837_1838del ENSP00000463827.2:n.1837_1838del
ENST00000584322.1:c.238_239del
ENST00000584322.2:c.2255_2256del ENSP00000463272.2:p.Lys752ArgfsTer12
ENST00000682066.1:c.2385_2386del ENSP00000507191.1:n.2385_2386del
ENST00000682073.1:n.995_996del
ENST00000682433.1:n.1334_1335del
ENST00000682453.1:c.2255_2256del ENSP00000506943.1:p.Lys752ArgfsTer12
ENST00000682477.1:c.*1681_*1682del ENSP00000507075.1:n.*1681_*1682del
ENST00000682589.1:n.8132_8133del
ENST00000682755.1:c.2033_2034del ENSP00000507660.1:p.Lys678ArgfsTer12
ENST00000682989.1:c.2255_2256del ENSP00000507786.1:p.Lys752ArgfsTer12
ENST00000683039.1:c.2255_2256del ENSP00000508303.1:p.Lys752ArgfsTer12
ENST00000683235.1:c.2255_2256del ENSP00000507646.1:p.Lys752ArgfsTer12
ENST00000683381.1:c.2315_2316del ENSP00000508184.1:p.Lys772ArgfsTer12
ENST00000683535.1:n.385_386del
ENST00000684471.1:n.668_669del
ENST00000684584.1:c.1748_1749del ENSP00000508044.1:p.Lys583ArgfsTer12
ENST00000684769.1:c.320_321del ENSP00000507691.1:p.Lys107ArgfsTer12
XM_011525332.1:c.2315_2316del XP_011523634.1:p.Lys772ArgfsTer12
XM_011525332.3:c.2315_2316del XP_011523634.1:p.Lys772ArgfsTer12
XM_011525333.1:c.2315_2316del XP_011523635.1:p.Lys772ArgfsTer12
XM_011525333.3:c.2315_2316del XP_011523635.1:p.Lys772ArgfsTer12
XM_011525334.1:c.2315_2316del XP_011523636.1:p.Lys772ArgfsTer12
XM_011525334.2:c.2315_2316del XP_011523636.1:p.Lys772ArgfsTer12
XM_011525335.1:c.2255_2256del XP_011523637.1:p.Lys752ArgfsTer12
XM_011525335.3:c.2255_2256del XP_011523637.1:p.Lys752ArgfsTer12
XM_011525336.1:c.2195_2196del XP_011523638.1:p.Lys732ArgfsTer12
XM_011525336.2:c.2195_2196del XP_011523638.1:p.Lys732ArgfsTer12
XM_011525337.1:c.2114_2115del XP_011523639.1:p.Lys705ArgfsTer12
XM_011525337.2:c.2114_2115del XP_011523639.1:p.Lys705ArgfsTer12
XM_011525338.1:c.1832_1833del XP_011523640.1:p.Lys611ArgfsTer12
XM_011525338.2:c.1832_1833del XP_011523640.1:p.Lys611ArgfsTer12
XM_011525339.1:c.2315_2316del XP_011523641.1:p.Lys772ArgfsTer12
XM_011525339.3:c.2315_2316del XP_011523641.1:p.Lys772ArgfsTer12
XM_011525340.1:c.2315_2316del XP_011523642.1:p.Lys772ArgfsTer12
XM_011525340.3:c.2315_2316del XP_011523642.1:p.Lys772ArgfsTer12
XM_017025200.1:c.1772_1773del XP_016880689.1:p.Lys591ArgfsTer12
XM_017025201.1:c.1772_1773del XP_016880690.1:p.Lys591ArgfsTer12
XM_017025202.1:c.401_402del XP_016880691.1:p.Lys134ArgfsTer12
XM_017025203.1:c.401_402del XP_016880692.1:p.Lys134ArgfsTer12