Canonical Allele Identifier: CA8690381

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 324348
• ClinVar RCV Id: RCV000398289 ; RCV000576538 ; RCV000579524 ; RCV000657450 ; RCV001030465 ; RCV001063687 ; RCV003316484 ; RCV001844126 ; RCV003168480
• dbSNP Id: rs779741278
• ExAC: 17:59761166 C / CA
• gnomAD v2: 17-59761166-C-CA
• gnomAD v3: 17-61683805-C-CA
• gnomAD v4: 17-61683805-C-CA
• MyVariant Identifiers: chr17:g.59761167dupA (hg19) ; chr17:g.59761166_59761167insA (hg19) ; chr17:g.61683806dupA (hg38) ; chr17:g.61683805_61683806insA (hg38)
• PubMed: PMID:20159562 ; PMID:21127055 ; PMID:22792074 ; PMID:27498913

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683806dup , CM000679.2:g.61683806dup	GRCh38
NC_000017.10:g.59761167dup , CM000679.1:g.59761167dup	GRCh37
NC_000017.9:g.57115949dup	NCBI36
NG_007409.2:g.184754dup , LRG_300:g.184754dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1980dup
ENST00000682453.1:c.3240dup	ENSP00000506943.1:p.Ala1081CysfsTer5
ENST00000682477.1:c.*2666dup	ENSP00000507075.1:n.*2666dup
ENST00000682589.1:n.9117dup
ENST00000682755.1:c.3018dup	ENSP00000507660.1:p.Ala1007CysfsTer5
ENST00000682989.1:c.*331dup	ENSP00000507786.1:n.*331dup
ENST00000683039.1:c.3240dup	ENSP00000508303.1:p.Ala1081CysfsTer5
ENST00000683235.1:c.*655dup	ENSP00000507646.1:n.*655dup
ENST00000683535.1:n.1370dup
ENST00000684584.1:c.2403dup	ENSP00000508044.1:p.Ala802CysfsTer5
ENST00000684626.1:n.1486dup
ENST00000684769.1:c.1430dup	ENSP00000507691.1:n.1430dup
ENST00000259008.7:c.3240dup MANE Select	ENSP00000259008.2:p.Ala1081CysfsTer5
ENST00000259008.6:c.3240dup	ENSP00000259008.2:p.Ala1081CysfsTer5
NM_032043.2:c.3240dup , LRG_300t1:c.3240dup	NP_114432.2:p.Ala1081CysfsTer5
XM_011525332.1:c.3300dup	XP_011523634.1:p.Ala1101CysfsTer5
XM_011525333.1:c.3300dup	XP_011523635.1:p.Ala1101CysfsTer5
XM_011525334.1:c.3300dup	XP_011523636.1:p.Ala1101CysfsTer5
XM_011525335.1:c.3240dup	XP_011523637.1:p.Ala1081CysfsTer5
XM_011525336.1:c.3180dup	XP_011523638.1:p.Ala1061CysfsTer5
XM_011525337.1:c.3099dup	XP_011523639.1:p.Ala1034CysfsTer5
XM_011525338.1:c.2817dup	XP_011523640.1:p.Ala940CysfsTer5
XM_011525332.3:c.3300dup	XP_011523634.1:p.Ala1101CysfsTer5
XM_011525333.3:c.3300dup	XP_011523635.1:p.Ala1101CysfsTer5
XM_011525334.2:c.3300dup	XP_011523636.1:p.Ala1101CysfsTer5
XM_011525335.3:c.3240dup	XP_011523637.1:p.Ala1081CysfsTer5
XM_011525336.2:c.3180dup	XP_011523638.1:p.Ala1061CysfsTer5
XM_011525337.2:c.3099dup	XP_011523639.1:p.Ala1034CysfsTer5
XM_011525338.2:c.2817dup	XP_011523640.1:p.Ala940CysfsTer5
XM_017025200.1:c.2757dup	XP_016880689.1:p.Ala920CysfsTer5
XM_017025201.1:c.2757dup	XP_016880690.1:p.Ala920CysfsTer5
XM_017025202.1:c.1386dup	XP_016880691.1:p.Ala463CysfsTer5
XM_017025203.1:c.1386dup	XP_016880692.1:p.Ala463CysfsTer5
NM_032043.3:c.3240dup MANE Select	NP_114432.2:p.Ala1081CysfsTer5