Canonical Allele Identifier: CA2580094556

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1731872
• ClinVar RCV Id: RCV002457392

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683561del , CM000679.2:g.61683561del	GRCh38
NC_000017.10:g.59760922del , CM000679.1:g.59760922del	GRCh37
NC_000017.9:g.57115704del	NCBI36
NG_007409.2:g.184999del , LRG_300:g.184999del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2225del
ENST00000682453.1:c.3485del	ENSP00000506943.1:p.Ser1162Ter
ENST00000682477.1:c.*2911del	ENSP00000507075.1:n.*2911del
ENST00000682589.1:n.9362del
ENST00000682755.1:c.3263del	ENSP00000507660.1:p.Ser1088Ter
ENST00000682989.1:c.*576del	ENSP00000507786.1:n.*576del
ENST00000683039.1:c.3485del	ENSP00000508303.1:p.Ser1162Ter
ENST00000683235.1:c.*900del	ENSP00000507646.1:n.*900del
ENST00000683535.1:n.1615del
ENST00000684584.1:c.2648del	ENSP00000508044.1:p.Ser883Ter
ENST00000684626.1:n.1731del
ENST00000684769.1:c.1675del	ENSP00000507691.1:n.1675del
ENST00000259008.7:c.3485del MANE Select	ENSP00000259008.2:p.Ser1162Ter
ENST00000259008.6:c.3485del	ENSP00000259008.2:p.Ser1162Ter
NM_032043.2:c.3485del , LRG_300t1:c.3485del	NP_114432.2:p.Ser1162Ter
XM_011525332.1:c.3545del	XP_011523634.1:p.Ser1182Ter
XM_011525333.1:c.3545del	XP_011523635.1:p.Ser1182Ter
XM_011525334.1:c.3545del	XP_011523636.1:p.Ser1182Ter
XM_011525335.1:c.3485del	XP_011523637.1:p.Ser1162Ter
XM_011525336.1:c.3425del	XP_011523638.1:p.Ser1142Ter
XM_011525337.1:c.3344del	XP_011523639.1:p.Ser1115Ter
XM_011525338.1:c.3062del	XP_011523640.1:p.Ser1021Ter
XM_011525332.3:c.3545del	XP_011523634.1:p.Ser1182Ter
XM_011525333.3:c.3545del	XP_011523635.1:p.Ser1182Ter
XM_011525334.2:c.3545del	XP_011523636.1:p.Ser1182Ter
XM_011525335.3:c.3485del	XP_011523637.1:p.Ser1162Ter
XM_011525336.2:c.3425del	XP_011523638.1:p.Ser1142Ter
XM_011525337.2:c.3344del	XP_011523639.1:p.Ser1115Ter
XM_011525338.2:c.3062del	XP_011523640.1:p.Ser1021Ter
XM_017025200.1:c.3002del	XP_016880689.1:p.Ser1001Ter
XM_017025201.1:c.3002del	XP_016880690.1:p.Ser1001Ter
XM_017025202.1:c.1631del	XP_016880691.1:p.Ser544Ter
XM_017025203.1:c.1631del	XP_016880692.1:p.Ser544Ter
NM_032043.3:c.3485del MANE Select	NP_114432.2:p.Ser1162Ter