Canonical Allele Identifier: CA1139665742

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 929542
• ClinVar RCV Id: RCV001194755 ; RCV001863071
• dbSNP Id: rs2061304922
• gnomAD v4: 17-61683556-A-AATCTGAATT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683557_61683565dup , CM000679.2:g.61683557_61683565dup	GRCh38
NC_000017.10:g.59760918_59760926dup , CM000679.1:g.59760918_59760926dup	GRCh37
NC_000017.9:g.57115700_57115708dup	NCBI36
NG_007409.2:g.184995_185003dup , LRG_300:g.184995_185003dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2221_2229dup
ENST00000682453.1:c.3481_3489dup	ENSP00000506943.1:p.Asp1163_Cys1164insAsnSerAsp
ENST00000682477.1:c.*2907_*2915dup	ENSP00000507075.1:n.*2907_*2915dup
ENST00000682589.1:n.9358_9366dup
ENST00000682755.1:c.3259_3267dup	ENSP00000507660.1:p.Asp1089_Cys1090insAsnSerAsp
ENST00000682989.1:c.*572_*580dup	ENSP00000507786.1:n.*572_*580dup
ENST00000683039.1:c.3481_3489dup	ENSP00000508303.1:p.Asp1163_Cys1164insAsnSerAsp
ENST00000683235.1:c.*896_*904dup	ENSP00000507646.1:n.*896_*904dup
ENST00000683535.1:n.1611_1619dup
ENST00000684584.1:c.2644_2652dup	ENSP00000508044.1:p.Asp884_Cys885insAsnSerAsp
ENST00000684626.1:n.1727_1735dup
ENST00000684769.1:c.1671_1679dup	ENSP00000507691.1:n.1671_1679dup
ENST00000259008.7:c.3481_3489dup MANE Select	ENSP00000259008.2:p.Asp1163_Cys1164insAsnSerAsp
ENST00000259008.6:c.3481_3489dup	ENSP00000259008.2:p.Asp1163_Cys1164insAsnSerAsp
NM_032043.2:c.3481_3489dup , LRG_300t1:c.3481_3489dup	NP_114432.2:p.Asp1163_Cys1164insAsnSerAsp
XM_011525332.1:c.3541_3549dup	XP_011523634.1:p.Asp1183_Cys1184insAsnSerAsp
XM_011525333.1:c.3541_3549dup	XP_011523635.1:p.Asp1183_Cys1184insAsnSerAsp
XM_011525334.1:c.3541_3549dup	XP_011523636.1:p.Asp1183_Cys1184insAsnSerAsp
XM_011525335.1:c.3481_3489dup	XP_011523637.1:p.Asp1163_Cys1164insAsnSerAsp
XM_011525336.1:c.3421_3429dup	XP_011523638.1:p.Asp1143_Cys1144insAsnSerAsp
XM_011525337.1:c.3340_3348dup	XP_011523639.1:p.Asp1116_Cys1117insAsnSerAsp
XM_011525338.1:c.3058_3066dup	XP_011523640.1:p.Asp1022_Cys1023insAsnSerAsp
XM_011525332.3:c.3541_3549dup	XP_011523634.1:p.Asp1183_Cys1184insAsnSerAsp
XM_011525333.3:c.3541_3549dup	XP_011523635.1:p.Asp1183_Cys1184insAsnSerAsp
XM_011525334.2:c.3541_3549dup	XP_011523636.1:p.Asp1183_Cys1184insAsnSerAsp
XM_011525335.3:c.3481_3489dup	XP_011523637.1:p.Asp1163_Cys1164insAsnSerAsp
XM_011525336.2:c.3421_3429dup	XP_011523638.1:p.Asp1143_Cys1144insAsnSerAsp
XM_011525337.2:c.3340_3348dup	XP_011523639.1:p.Asp1116_Cys1117insAsnSerAsp
XM_011525338.2:c.3058_3066dup	XP_011523640.1:p.Asp1022_Cys1023insAsnSerAsp
XM_017025200.1:c.2998_3006dup	XP_016880689.1:p.Asp1002_Cys1003insAsnSerAsp
XM_017025201.1:c.2998_3006dup	XP_016880690.1:p.Asp1002_Cys1003insAsnSerAsp
XM_017025202.1:c.1627_1635dup	XP_016880691.1:p.Asp545_Cys546insAsnSerAsp
XM_017025203.1:c.1627_1635dup	XP_016880692.1:p.Asp545_Cys546insAsnSerAsp
NM_032043.3:c.3481_3489dup MANE Select	NP_114432.2:p.Asp1163_Cys1164insAsnSerAsp