Canonical Allele Identifier: CA1139665793

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 944523
• ClinVar RCV Id: RCV001214939

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61801272_61805677del , CM000679.2:g.61801272_61805677del	GRCh38
NC_000017.10:g.59878633_59883038del , CM000679.1:g.59878633_59883038del	GRCh37
NC_000017.9:g.57233415_57237820del	NCBI36
NG_007409.2:g.62883_67288del , LRG_300:g.62883_67288del

Transcript Alleles

HGVS	Amino-acid change
ENST00000579028.2:c.411+2790_614del
ENST00000584322.2:c.918+2790_1121del
ENST00000682066.1:c.411+2790_614del
ENST00000682453.1:c.918+2790_1121del
ENST00000682477.1:c.918+2790_1121del
ENST00000682589.1:n.2659+2790_2862del
ENST00000682611.1:c.411+2790_614del
ENST00000682755.1:c.918+2790_919-1973del	ENSP00000507660.1:n.918+2790_919-1973del
ENST00000682989.1:c.918+2790_1121del
ENST00000683039.1:c.918+2790_1121del
ENST00000683235.1:c.918+2790_1121del
ENST00000683381.1:c.918+2790_1121del
ENST00000683692.1:c.411+2790_699del
ENST00000684584.1:c.411+2790_614del
ENST00000259008.7:c.918+2790_1121del
ENST00000259008.6:c.918+2790_1121del
ENST00000577598.5:c.918+2790_1121del
NM_032043.2:c.918+2790_1121del , LRG_300t1:c.918+2790_1121del
XM_011525332.1:c.918+2790_1121del
XM_011525333.1:c.918+2790_1121del
XM_011525334.1:c.918+2790_1121del
XM_011525335.1:c.918+2790_1121del
XM_011525336.1:c.918+2790_1121del
XM_011525337.1:c.918+2790_1121del
XM_011525338.1:c.435+2790_638del
XM_011525339.1:c.918+2790_1121del
XM_011525340.1:c.918+2790_1121del
XM_011525341.1:c.918+2790_1121del
XM_011525332.3:c.918+2790_1121del
XM_011525333.3:c.918+2790_1121del
XM_011525334.2:c.918+2790_1121del
XM_011525335.3:c.918+2790_1121del
XM_011525336.2:c.918+2790_1121del
XM_011525337.2:c.918+2790_1121del
XM_011525338.2:c.435+2790_638del
XM_011525339.3:c.918+2790_1121del
XM_011525340.3:c.918+2790_1121del
XM_011525341.3:c.918+2790_1121del
XM_017025200.1:c.435+2790_638del
XM_017025201.1:c.375+2790_578del
NM_032043.3:c.918+2790_1121del