Canonical Allele Identifier: CA2269178654

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1070540
• ClinVar RCV Id: RCV001382730
• dbSNP Id: rs2077948208

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61799164_61799186dup , CM000679.2:g.61799164_61799186dup	GRCh38
NC_000017.10:g.59876525_59876547dup , CM000679.1:g.59876525_59876547dup	GRCh37
NC_000017.9:g.57231307_57231329dup	NCBI36
NG_007409.2:g.69376_69398dup , LRG_300:g.69376_69398dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000579028.2:c.749_771dup	ENSP00000463827.2:p.Asn258GlyfsTer4
ENST00000584322.2:c.1256_1278dup	ENSP00000463272.2:p.Asn427GlyfsTer4
ENST00000682066.1:c.749_771dup	ENSP00000507191.1:p.Asn258GlyfsTer4
ENST00000682453.1:c.1256_1278dup	ENSP00000506943.1:p.Asn427GlyfsTer4
ENST00000682477.1:c.1256_1278dup	ENSP00000507075.1:p.Asn427GlyfsTer4
ENST00000682589.1:n.2997_3019dup
ENST00000682611.1:c.749_771dup	ENSP00000508326.1:p.Asn258GlyfsTer4
ENST00000682755.1:c.1034_1056dup	ENSP00000507660.1:p.Asn353GlyfsTer4
ENST00000682989.1:c.1256_1278dup	ENSP00000507786.1:p.Asn427GlyfsTer4
ENST00000683039.1:c.1256_1278dup	ENSP00000508303.1:p.Asn427GlyfsTer4
ENST00000683235.1:c.1256_1278dup	ENSP00000507646.1:p.Asn427GlyfsTer4
ENST00000683381.1:c.1256_1278dup	ENSP00000508184.1:p.Asn427GlyfsTer4
ENST00000683692.1:c.834_856dup	ENSP00000507964.1:n.834_856dup
ENST00000684584.1:c.749_771dup	ENSP00000508044.1:p.Asn258GlyfsTer4
ENST00000259008.7:c.1256_1278dup MANE Select	ENSP00000259008.2:p.Asn427GlyfsTer4
ENST00000259008.6:c.1256_1278dup	ENSP00000259008.2:p.Asn427GlyfsTer4
ENST00000577598.5:c.1256_1278dup	ENSP00000464654.1:p.Asn427GlyfsTer4
NM_032043.2:c.1256_1278dup , LRG_300t1:c.1256_1278dup	NP_114432.2:p.Asn427GlyfsTer4
XM_011525332.1:c.1256_1278dup	XP_011523634.1:p.Asn427GlyfsTer4
XM_011525333.1:c.1256_1278dup	XP_011523635.1:p.Asn427GlyfsTer4
XM_011525334.1:c.1256_1278dup	XP_011523636.1:p.Asn427GlyfsTer4
XM_011525335.1:c.1256_1278dup	XP_011523637.1:p.Asn427GlyfsTer4
XM_011525336.1:c.1256_1278dup	XP_011523638.1:p.Asn427GlyfsTer4
XM_011525337.1:c.1256_1278dup	XP_011523639.1:p.Asn427GlyfsTer4
XM_011525338.1:c.773_795dup	XP_011523640.1:p.Asn266GlyfsTer4
XM_011525339.1:c.1256_1278dup	XP_011523641.1:p.Asn427GlyfsTer4
XM_011525340.1:c.1256_1278dup	XP_011523642.1:p.Asn427GlyfsTer4
XM_011525341.1:c.1256_1278dup	XP_011523643.1:p.Asn427GlyfsTer4
XM_011525332.3:c.1256_1278dup	XP_011523634.1:p.Asn427GlyfsTer4
XM_011525333.3:c.1256_1278dup	XP_011523635.1:p.Asn427GlyfsTer4
XM_011525334.2:c.1256_1278dup	XP_011523636.1:p.Asn427GlyfsTer4
XM_011525335.3:c.1256_1278dup	XP_011523637.1:p.Asn427GlyfsTer4
XM_011525336.2:c.1256_1278dup	XP_011523638.1:p.Asn427GlyfsTer4
XM_011525337.2:c.1256_1278dup	XP_011523639.1:p.Asn427GlyfsTer4
XM_011525338.2:c.773_795dup	XP_011523640.1:p.Asn266GlyfsTer4
XM_011525339.3:c.1256_1278dup	XP_011523641.1:p.Asn427GlyfsTer4
XM_011525340.3:c.1256_1278dup	XP_011523642.1:p.Asn427GlyfsTer4
XM_011525341.3:c.1256_1278dup	XP_011523643.1:p.Asn427GlyfsTer4
XM_017025200.1:c.773_795dup	XP_016880689.1:p.Asn266GlyfsTer4
XM_017025201.1:c.713_735dup	XP_016880690.1:p.Asn246GlyfsTer4
NM_032043.3:c.1256_1278dup MANE Select	NP_114432.2:p.Asn427GlyfsTer4