Canonical Allele Identifier: CA2269130850

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1043612
• ClinVar RCV Id: RCV001347741
• dbSNP Id: rs2061304770

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683556_61683557delinsCG , CM000679.2:g.61683556_61683557delinsCG	GRCh38
NC_000017.10:g.59760917_59760918delinsCG , CM000679.1:g.59760917_59760918delinsCG	GRCh37
NC_000017.9:g.57115699_57115700delinsCG	NCBI36
NG_007409.2:g.185003_185004delinsCG , LRG_300:g.185003_185004delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2229_2230delinsCG
ENST00000682453.1:c.3489_3490delinsCG	ENSP00000506943.1:p.Cys1164Gly
ENST00000682477.1:c.*2915_*2916delinsCG	ENSP00000507075.1:n.*2915_*2916delinsCG
ENST00000682589.1:n.9366_9367delinsCG
ENST00000682755.1:c.3267_3268delinsCG	ENSP00000507660.1:p.Cys1090Gly
ENST00000682989.1:c.*580_*581delinsCG	ENSP00000507786.1:n.*580_*581delinsCG
ENST00000683039.1:c.3489_3490delinsCG	ENSP00000508303.1:p.Cys1164Gly
ENST00000683235.1:c.*904_*905delinsCG	ENSP00000507646.1:n.*904_*905delinsCG
ENST00000683535.1:n.1619_1620delinsCG
ENST00000684584.1:c.2652_2653delinsCG	ENSP00000508044.1:p.Cys885Gly
ENST00000684626.1:n.1735_1736delinsCG
ENST00000684769.1:c.1679_1680delinsCG	ENSP00000507691.1:n.1679_1680delinsCG
ENST00000259008.7:c.3489_3490delinsCG MANE Select	ENSP00000259008.2:p.Cys1164Gly
ENST00000259008.6:c.3489_3490delinsCG	ENSP00000259008.2:p.Cys1164Gly
NM_032043.2:c.3489_3490delinsCG , LRG_300t1:c.3489_3490delinsCG	NP_114432.2:p.Cys1164Gly
XM_011525332.1:c.3549_3550delinsCG	XP_011523634.1:p.Cys1184Gly
XM_011525333.1:c.3549_3550delinsCG	XP_011523635.1:p.Cys1184Gly
XM_011525334.1:c.3549_3550delinsCG	XP_011523636.1:p.Cys1184Gly
XM_011525335.1:c.3489_3490delinsCG	XP_011523637.1:p.Cys1164Gly
XM_011525336.1:c.3429_3430delinsCG	XP_011523638.1:p.Cys1144Gly
XM_011525337.1:c.3348_3349delinsCG	XP_011523639.1:p.Cys1117Gly
XM_011525338.1:c.3066_3067delinsCG	XP_011523640.1:p.Cys1023Gly
XM_011525332.3:c.3549_3550delinsCG	XP_011523634.1:p.Cys1184Gly
XM_011525333.3:c.3549_3550delinsCG	XP_011523635.1:p.Cys1184Gly
XM_011525334.2:c.3549_3550delinsCG	XP_011523636.1:p.Cys1184Gly
XM_011525335.3:c.3489_3490delinsCG	XP_011523637.1:p.Cys1164Gly
XM_011525336.2:c.3429_3430delinsCG	XP_011523638.1:p.Cys1144Gly
XM_011525337.2:c.3348_3349delinsCG	XP_011523639.1:p.Cys1117Gly
XM_011525338.2:c.3066_3067delinsCG	XP_011523640.1:p.Cys1023Gly
XM_017025200.1:c.3006_3007delinsCG	XP_016880689.1:p.Cys1003Gly
XM_017025201.1:c.3006_3007delinsCG	XP_016880690.1:p.Cys1003Gly
XM_017025202.1:c.1635_1636delinsCG	XP_016880691.1:p.Cys546Gly
XM_017025203.1:c.1635_1636delinsCG	XP_016880692.1:p.Cys546Gly
NM_032043.3:c.3489_3490delinsCG MANE Select	NP_114432.2:p.Cys1164Gly