Canonical Allele Identifier: CA658658650

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 461144
• ClinVar RCV Id: RCV000553250
• dbSNP Id: rs1555572724

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683769delinsTTCTGAA , CM000679.2:g.61683769delinsTTCTGAA	GRCh38
NC_000017.10:g.59761130delinsTTCTGAA , CM000679.1:g.59761130delinsTTCTGAA	GRCh37
NC_000017.9:g.57115912delinsTTCTGAA	NCBI36
NG_007409.2:g.184791delinsTTCAGAA , LRG_300:g.184791delinsTTCAGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2017delinsTTCAGAA
ENST00000682453.1:c.3277delinsTTCAGAA	ENSP00000506943.1:p.Leu1093delinsPheArgIle
ENST00000682477.1:c.*2703delinsTTCAGAA	ENSP00000507075.1:n.*2703delinsTTCAGAA
ENST00000682589.1:n.9154delinsTTCAGAA
ENST00000682755.1:c.3055delinsTTCAGAA	ENSP00000507660.1:p.Leu1019delinsPheArgIle
ENST00000682989.1:c.*368delinsTTCAGAA	ENSP00000507786.1:n.*368delinsTTCAGAA
ENST00000683039.1:c.3277delinsTTCAGAA	ENSP00000508303.1:p.Leu1093delinsPheArgIle
ENST00000683235.1:c.*692delinsTTCAGAA	ENSP00000507646.1:n.*692delinsTTCAGAA
ENST00000683535.1:n.1407delinsTTCAGAA
ENST00000684584.1:c.2440delinsTTCAGAA	ENSP00000508044.1:p.Leu814delinsPheArgIle
ENST00000684626.1:n.1523delinsTTCAGAA
ENST00000684769.1:c.1467delinsTTCAGAA	ENSP00000507691.1:n.1467delinsTTCAGAA
ENST00000259008.7:c.3277delinsTTCAGAA MANE Select	ENSP00000259008.2:p.Leu1093delinsPheArgIle
ENST00000259008.6:c.3277delinsTTCAGAA	ENSP00000259008.2:p.Leu1093delinsPheArgIle
NM_032043.2:c.3277delinsTTCAGAA , LRG_300t1:c.3277delinsTTCAGAA	NP_114432.2:p.Leu1093delinsPheArgIle
XM_011525332.1:c.3337delinsTTCAGAA	XP_011523634.1:p.Leu1113delinsPheArgIle
XM_011525333.1:c.3337delinsTTCAGAA	XP_011523635.1:p.Leu1113delinsPheArgIle
XM_011525334.1:c.3337delinsTTCAGAA	XP_011523636.1:p.Leu1113delinsPheArgIle
XM_011525335.1:c.3277delinsTTCAGAA	XP_011523637.1:p.Leu1093delinsPheArgIle
XM_011525336.1:c.3217delinsTTCAGAA	XP_011523638.1:p.Leu1073delinsPheArgIle
XM_011525337.1:c.3136delinsTTCAGAA	XP_011523639.1:p.Leu1046delinsPheArgIle
XM_011525338.1:c.2854delinsTTCAGAA	XP_011523640.1:p.Leu952delinsPheArgIle
XM_011525332.3:c.3337delinsTTCAGAA	XP_011523634.1:p.Leu1113delinsPheArgIle
XM_011525333.3:c.3337delinsTTCAGAA	XP_011523635.1:p.Leu1113delinsPheArgIle
XM_011525334.2:c.3337delinsTTCAGAA	XP_011523636.1:p.Leu1113delinsPheArgIle
XM_011525335.3:c.3277delinsTTCAGAA	XP_011523637.1:p.Leu1093delinsPheArgIle
XM_011525336.2:c.3217delinsTTCAGAA	XP_011523638.1:p.Leu1073delinsPheArgIle
XM_011525337.2:c.3136delinsTTCAGAA	XP_011523639.1:p.Leu1046delinsPheArgIle
XM_011525338.2:c.2854delinsTTCAGAA	XP_011523640.1:p.Leu952delinsPheArgIle
XM_017025200.1:c.2794delinsTTCAGAA	XP_016880689.1:p.Leu932delinsPheArgIle
XM_017025201.1:c.2794delinsTTCAGAA	XP_016880690.1:p.Leu932delinsPheArgIle
XM_017025202.1:c.1423delinsTTCAGAA	XP_016880691.1:p.Leu475delinsPheArgIle
XM_017025203.1:c.1423delinsTTCAGAA	XP_016880692.1:p.Leu475delinsPheArgIle
NM_032043.3:c.3277delinsTTCAGAA MANE Select	NP_114432.2:p.Leu1093delinsPheArgIle