Canonical Allele Identifier: CA891843524

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 569616
• ClinVar RCV Id: RCV000690293 ; RCV001188622 ; RCV003472200
• dbSNP Id: rs1567831477
• gnomAD v4: 17-61801282-A-AGT
• MyVariant Identifiers: chr17:g.59878644_59878645dup (hg19) ; chr17:g.61801283_61801284dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61801283_61801284dup , CM000679.2:g.61801283_61801284dup	GRCh38
NC_000017.10:g.59878644_59878645dup , CM000679.1:g.59878644_59878645dup	GRCh37
NC_000017.9:g.57233426_57233427dup	NCBI36
NG_007409.2:g.67276_67277dup , LRG_300:g.67276_67277dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000579028.2:c.602_603dup	ENSP00000463827.2:p.Tyr202ThrfsTer4
ENST00000584322.2:c.1109_1110dup	ENSP00000463272.2:p.Tyr371ThrfsTer4
ENST00000682066.1:c.602_603dup	ENSP00000507191.1:p.Tyr202ThrfsTer4
ENST00000682453.1:c.1109_1110dup	ENSP00000506943.1:p.Tyr371ThrfsTer4
ENST00000682477.1:c.1109_1110dup	ENSP00000507075.1:p.Tyr371ThrfsTer4
ENST00000682589.1:n.2850_2851dup
ENST00000682611.1:c.602_603dup	ENSP00000508326.1:p.Tyr202ThrfsTer4
ENST00000682755.1:c.919-1985_919-1984dup	ENSP00000507660.1:n.919-1985_919-1984dup
ENST00000682989.1:c.1109_1110dup	ENSP00000507786.1:p.Tyr371ThrfsTer4
ENST00000683039.1:c.1109_1110dup	ENSP00000508303.1:p.Tyr371ThrfsTer4
ENST00000683235.1:c.1109_1110dup	ENSP00000507646.1:p.Tyr371ThrfsTer4
ENST00000683381.1:c.1109_1110dup	ENSP00000508184.1:p.Tyr371ThrfsTer4
ENST00000683692.1:c.687_688dup	ENSP00000507964.1:n.687_688dup
ENST00000684584.1:c.602_603dup	ENSP00000508044.1:p.Tyr202ThrfsTer4
ENST00000259008.7:c.1109_1110dup MANE Select	ENSP00000259008.2:p.Tyr371ThrfsTer4
ENST00000259008.6:c.1109_1110dup	ENSP00000259008.2:p.Tyr371ThrfsTer4
ENST00000577598.5:c.1109_1110dup	ENSP00000464654.1:p.Tyr371ThrfsTer4
NM_032043.2:c.1109_1110dup , LRG_300t1:c.1109_1110dup	NP_114432.2:p.Tyr371ThrfsTer4
XM_011525332.1:c.1109_1110dup	XP_011523634.1:p.Tyr371ThrfsTer4
XM_011525333.1:c.1109_1110dup	XP_011523635.1:p.Tyr371ThrfsTer4
XM_011525334.1:c.1109_1110dup	XP_011523636.1:p.Tyr371ThrfsTer4
XM_011525335.1:c.1109_1110dup	XP_011523637.1:p.Tyr371ThrfsTer4
XM_011525336.1:c.1109_1110dup	XP_011523638.1:p.Tyr371ThrfsTer4
XM_011525337.1:c.1109_1110dup	XP_011523639.1:p.Tyr371ThrfsTer4
XM_011525338.1:c.626_627dup	XP_011523640.1:p.Tyr210ThrfsTer4
XM_011525339.1:c.1109_1110dup	XP_011523641.1:p.Tyr371ThrfsTer4
XM_011525340.1:c.1109_1110dup	XP_011523642.1:p.Tyr371ThrfsTer4
XM_011525341.1:c.1109_1110dup	XP_011523643.1:p.Tyr371ThrfsTer4
XM_011525332.3:c.1109_1110dup	XP_011523634.1:p.Tyr371ThrfsTer4
XM_011525333.3:c.1109_1110dup	XP_011523635.1:p.Tyr371ThrfsTer4
XM_011525334.2:c.1109_1110dup	XP_011523636.1:p.Tyr371ThrfsTer4
XM_011525335.3:c.1109_1110dup	XP_011523637.1:p.Tyr371ThrfsTer4
XM_011525336.2:c.1109_1110dup	XP_011523638.1:p.Tyr371ThrfsTer4
XM_011525337.2:c.1109_1110dup	XP_011523639.1:p.Tyr371ThrfsTer4
XM_011525338.2:c.626_627dup	XP_011523640.1:p.Tyr210ThrfsTer4
XM_011525339.3:c.1109_1110dup	XP_011523641.1:p.Tyr371ThrfsTer4
XM_011525340.3:c.1109_1110dup	XP_011523642.1:p.Tyr371ThrfsTer4
XM_011525341.3:c.1109_1110dup	XP_011523643.1:p.Tyr371ThrfsTer4
XM_017025200.1:c.626_627dup	XP_016880689.1:p.Tyr210ThrfsTer4
XM_017025201.1:c.566_567dup	XP_016880690.1:p.Tyr190ThrfsTer4
NM_032043.3:c.1109_1110dup MANE Select	NP_114432.2:p.Tyr371ThrfsTer4