Canonical Allele Identifier: CA2580094566

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1804840
• ClinVar RCV Id: RCV002470137

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683821_61683824del , CM000679.2:g.61683821_61683824del	GRCh38
NC_000017.10:g.59761182_59761185del , CM000679.1:g.59761182_59761185del	GRCh37
NC_000017.9:g.57115964_57115967del	NCBI36
NG_007409.2:g.184737_184740del , LRG_300:g.184737_184740del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1963_1966del
ENST00000682453.1:c.3223_3226del	ENSP00000506943.1:p.Ser1075HisfsTer2
ENST00000682477.1:c.*2649_*2652del	ENSP00000507075.1:n.*2649_*2652del
ENST00000682589.1:n.9100_9103del
ENST00000682755.1:c.3001_3004del	ENSP00000507660.1:p.Ser1001HisfsTer2
ENST00000682989.1:c.*314_*317del	ENSP00000507786.1:n.*314_*317del
ENST00000683039.1:c.3223_3226del	ENSP00000508303.1:p.Ser1075HisfsTer2
ENST00000683235.1:c.*638_*641del	ENSP00000507646.1:n.*638_*641del
ENST00000683535.1:n.1353_1356del
ENST00000684584.1:c.2386_2389del	ENSP00000508044.1:p.Ser796HisfsTer2
ENST00000684626.1:n.1469_1472del
ENST00000684769.1:c.1413_1416del	ENSP00000507691.1:n.1413_1416del
ENST00000259008.7:c.3223_3226del MANE Select	ENSP00000259008.2:p.Ser1075HisfsTer2
ENST00000259008.6:c.3223_3226del	ENSP00000259008.2:p.Ser1075HisfsTer2
NM_032043.2:c.3223_3226del , LRG_300t1:c.3223_3226del	NP_114432.2:p.Ser1075HisfsTer2
XM_011525332.1:c.3283_3286del	XP_011523634.1:p.Ser1095HisfsTer2
XM_011525333.1:c.3283_3286del	XP_011523635.1:p.Ser1095HisfsTer2
XM_011525334.1:c.3283_3286del	XP_011523636.1:p.Ser1095HisfsTer2
XM_011525335.1:c.3223_3226del	XP_011523637.1:p.Ser1075HisfsTer2
XM_011525336.1:c.3163_3166del	XP_011523638.1:p.Ser1055HisfsTer2
XM_011525337.1:c.3082_3085del	XP_011523639.1:p.Ser1028HisfsTer2
XM_011525338.1:c.2800_2803del	XP_011523640.1:p.Ser934HisfsTer2
XM_011525332.3:c.3283_3286del	XP_011523634.1:p.Ser1095HisfsTer2
XM_011525333.3:c.3283_3286del	XP_011523635.1:p.Ser1095HisfsTer2
XM_011525334.2:c.3283_3286del	XP_011523636.1:p.Ser1095HisfsTer2
XM_011525335.3:c.3223_3226del	XP_011523637.1:p.Ser1075HisfsTer2
XM_011525336.2:c.3163_3166del	XP_011523638.1:p.Ser1055HisfsTer2
XM_011525337.2:c.3082_3085del	XP_011523639.1:p.Ser1028HisfsTer2
XM_011525338.2:c.2800_2803del	XP_011523640.1:p.Ser934HisfsTer2
XM_017025200.1:c.2740_2743del	XP_016880689.1:p.Ser914HisfsTer2
XM_017025201.1:c.2740_2743del	XP_016880690.1:p.Ser914HisfsTer2
XM_017025202.1:c.1369_1372del	XP_016880691.1:p.Ser457HisfsTer2
XM_017025203.1:c.1369_1372del	XP_016880692.1:p.Ser457HisfsTer2
NM_032043.3:c.3223_3226del MANE Select	NP_114432.2:p.Ser1075HisfsTer2