Canonical Allele Identifier: CA2580094554

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 2173372
• ClinVar RCV Id: RCV002581880

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683544del , CM000679.2:g.61683544del	GRCh38
NC_000017.10:g.59760905del , CM000679.1:g.59760905del	GRCh37
NC_000017.9:g.57115687del	NCBI36
NG_007409.2:g.185018del , LRG_300:g.185018del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2244del
ENST00000682453.1:c.3504del	ENSP00000506943.1:p.Asp1169ThrfsTer8
ENST00000682477.1:c.*2930del	ENSP00000507075.1:n.*2930del
ENST00000682589.1:n.9381del
ENST00000682755.1:c.3282del	ENSP00000507660.1:p.Asp1095ThrfsTer8
ENST00000682989.1:c.*595del	ENSP00000507786.1:n.*595del
ENST00000683039.1:c.3504del	ENSP00000508303.1:p.Asp1169ThrfsTer8
ENST00000683235.1:c.*919del	ENSP00000507646.1:n.*919del
ENST00000683535.1:n.1634del
ENST00000684584.1:c.2667del	ENSP00000508044.1:p.Asp890ThrfsTer8
ENST00000684626.1:n.1750del
ENST00000684769.1:c.1694del	ENSP00000507691.1:n.1694del
ENST00000259008.7:c.3504del MANE Select	ENSP00000259008.2:p.Asp1169ThrfsTer8
ENST00000259008.6:c.3504del	ENSP00000259008.2:p.Asp1169ThrfsTer8
NM_032043.2:c.3504del , LRG_300t1:c.3504del	NP_114432.2:p.Asp1169ThrfsTer8
XM_011525332.1:c.3564del	XP_011523634.1:p.Asp1189ThrfsTer8
XM_011525333.1:c.3564del	XP_011523635.1:p.Asp1189ThrfsTer8
XM_011525334.1:c.3564del	XP_011523636.1:p.Asp1189ThrfsTer8
XM_011525335.1:c.3504del	XP_011523637.1:p.Asp1169ThrfsTer8
XM_011525336.1:c.3444del	XP_011523638.1:p.Asp1149ThrfsTer8
XM_011525337.1:c.3363del	XP_011523639.1:p.Asp1122ThrfsTer8
XM_011525338.1:c.3081del	XP_011523640.1:p.Asp1028ThrfsTer8
XM_011525332.3:c.3564del	XP_011523634.1:p.Asp1189ThrfsTer8
XM_011525333.3:c.3564del	XP_011523635.1:p.Asp1189ThrfsTer8
XM_011525334.2:c.3564del	XP_011523636.1:p.Asp1189ThrfsTer8
XM_011525335.3:c.3504del	XP_011523637.1:p.Asp1169ThrfsTer8
XM_011525336.2:c.3444del	XP_011523638.1:p.Asp1149ThrfsTer8
XM_011525337.2:c.3363del	XP_011523639.1:p.Asp1122ThrfsTer8
XM_011525338.2:c.3081del	XP_011523640.1:p.Asp1028ThrfsTer8
XM_017025200.1:c.3021del	XP_016880689.1:p.Asp1008ThrfsTer8
XM_017025201.1:c.3021del	XP_016880690.1:p.Asp1008ThrfsTer8
XM_017025202.1:c.1650del	XP_016880691.1:p.Asp551ThrfsTer8
XM_017025203.1:c.1650del	XP_016880692.1:p.Asp551ThrfsTer8
NM_032043.3:c.3504del MANE Select	NP_114432.2:p.Asp1169ThrfsTer8