Canonical Allele Identifier: CA16620512
Gene: BRIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 420735
ClinVar RCV Id: RCV000480248
dbSNP Id: rs1064794668
MyVariant Identifiers: chr17:g.59761433del (hg19) chr17:g.61684072del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61684073del , CM000679.2:g.61684073del GRCh38
NC_000017.10:g.59761434del , CM000679.1:g.59761434del GRCh37
NC_000017.9:g.57116216del NCBI36
NG_007409.2:g.184488del , LRG_300:g.184488del

Transcript Alleles

HGVS Amino-acid change
ENST00000682073.1:n.1714del
ENST00000682453.1:c.2974del ENSP00000506943.1:p.Thr992LeufsTer?
ENST00000682477.1:c.*2400del ENSP00000507075.1:n.*2400del
ENST00000682589.1:n.8851del
ENST00000682755.1:c.2752del ENSP00000507660.1:p.Thr918LeufsTer?
ENST00000682989.1:c.*65del ENSP00000507786.1:n.*65del
ENST00000683039.1:c.2974del ENSP00000508303.1:p.Thr992LeufsTer?
ENST00000683235.1:c.*389del ENSP00000507646.1:n.*389del
ENST00000683535.1:n.1104del
ENST00000684584.1:c.2137del ENSP00000508044.1:p.Thr713LeufsTer?
ENST00000684626.1:n.1220del
ENST00000684769.1:c.1164del ENSP00000507691.1:n.1164del
ENST00000259008.7:c.2974del MANE Select ENSP00000259008.2:p.Thr992LeufsTer?
ENST00000259008.6:c.2974del ENSP00000259008.2:p.Thr992LeufsTer?
NM_032043.2:c.2974del , LRG_300t1:c.2974del NP_114432.2:p.Thr992LeufsTer?
XM_011525332.1:c.3034del XP_011523634.1:p.Thr1012LeufsTer?
XM_011525333.1:c.3034del XP_011523635.1:p.Thr1012LeufsTer?
XM_011525334.1:c.3034del XP_011523636.1:p.Thr1012LeufsTer?
XM_011525335.1:c.2974del XP_011523637.1:p.Thr992LeufsTer?
XM_011525336.1:c.2914del XP_011523638.1:p.Thr972LeufsTer?
XM_011525337.1:c.2833del XP_011523639.1:p.Thr945LeufsTer?
XM_011525338.1:c.2551del XP_011523640.1:p.Thr851LeufsTer?
XM_011525332.3:c.3034del XP_011523634.1:p.Thr1012LeufsTer?
XM_011525333.3:c.3034del XP_011523635.1:p.Thr1012LeufsTer?
XM_011525334.2:c.3034del XP_011523636.1:p.Thr1012LeufsTer?
XM_011525335.3:c.2974del XP_011523637.1:p.Thr992LeufsTer?
XM_011525336.2:c.2914del XP_011523638.1:p.Thr972LeufsTer?
XM_011525337.2:c.2833del XP_011523639.1:p.Thr945LeufsTer?
XM_011525338.2:c.2551del XP_011523640.1:p.Thr851LeufsTer?
XM_017025200.1:c.2491del XP_016880689.1:p.Thr831LeufsTer?
XM_017025201.1:c.2491del XP_016880690.1:p.Thr831LeufsTer?
XM_017025202.1:c.1120del XP_016880691.1:p.Thr374LeufsTer?
XM_017025203.1:c.1120del XP_016880692.1:p.Thr374LeufsTer?
NM_032043.3:c.2974del MANE Select NP_114432.2:p.Thr992LeufsTer?
Search 100 bp 5'
Search 100 bp 3'