Canonical Allele Identifier: CA2825002550

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 3068714
• ClinVar RCV Id: RCV003994780

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683698del , CM000679.2:g.61683698del	GRCh38
NC_000017.10:g.59761059del , CM000679.1:g.59761059del	GRCh37
NC_000017.9:g.57115841del	NCBI36
NG_007409.2:g.184863del , LRG_300:g.184863del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2089del
ENST00000682453.1:c.3349del	ENSP00000506943.1:p.Ser1117GlnfsTer?
ENST00000682477.1:c.*2775del	ENSP00000507075.1:n.*2775del
ENST00000682589.1:n.9226del
ENST00000682755.1:c.3127del	ENSP00000507660.1:p.Ser1043GlnfsTer?
ENST00000682989.1:c.*440del	ENSP00000507786.1:n.*440del
ENST00000683039.1:c.3349del	ENSP00000508303.1:p.Ser1117GlnfsTer?
ENST00000683235.1:c.*764del	ENSP00000507646.1:n.*764del
ENST00000683535.1:n.1479del
ENST00000684584.1:c.2512del	ENSP00000508044.1:p.Ser838GlnfsTer?
ENST00000684626.1:n.1595del
ENST00000684769.1:c.1539del	ENSP00000507691.1:n.1539del
ENST00000259008.7:c.3349del MANE Select	ENSP00000259008.2:p.Ser1117GlnfsTer?
ENST00000259008.6:c.3349del	ENSP00000259008.2:p.Ser1117GlnfsTer?
NM_032043.2:c.3349del , LRG_300t1:c.3349del	NP_114432.2:p.Ser1117GlnfsTer?
XM_011525332.1:c.3409del	XP_011523634.1:p.Ser1137GlnfsTer?
XM_011525333.1:c.3409del	XP_011523635.1:p.Ser1137GlnfsTer?
XM_011525334.1:c.3409del	XP_011523636.1:p.Ser1137GlnfsTer?
XM_011525335.1:c.3349del	XP_011523637.1:p.Ser1117GlnfsTer?
XM_011525336.1:c.3289del	XP_011523638.1:p.Ser1097GlnfsTer?
XM_011525337.1:c.3208del	XP_011523639.1:p.Ser1070GlnfsTer?
XM_011525338.1:c.2926del	XP_011523640.1:p.Ser976GlnfsTer?
XM_011525332.3:c.3409del	XP_011523634.1:p.Ser1137GlnfsTer?
XM_011525333.3:c.3409del	XP_011523635.1:p.Ser1137GlnfsTer?
XM_011525334.2:c.3409del	XP_011523636.1:p.Ser1137GlnfsTer?
XM_011525335.3:c.3349del	XP_011523637.1:p.Ser1117GlnfsTer?
XM_011525336.2:c.3289del	XP_011523638.1:p.Ser1097GlnfsTer?
XM_011525337.2:c.3208del	XP_011523639.1:p.Ser1070GlnfsTer?
XM_011525338.2:c.2926del	XP_011523640.1:p.Ser976GlnfsTer?
XM_017025200.1:c.2866del	XP_016880689.1:p.Ser956GlnfsTer?
XM_017025201.1:c.2866del	XP_016880690.1:p.Ser956GlnfsTer?
XM_017025202.1:c.1495del	XP_016880691.1:p.Ser499GlnfsTer?
XM_017025203.1:c.1495del	XP_016880692.1:p.Ser499GlnfsTer?
NM_032043.3:c.3349del MANE Select	NP_114432.2:p.Ser1117GlnfsTer?