Canonical Allele Identifier: CA2825002549

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 3228127
• ClinVar RCV Id: RCV004519837

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683633_61683635delinsCCG , CM000679.2:g.61683633_61683635delinsCCG	GRCh38
NC_000017.10:g.59760994_59760996delinsCCG , CM000679.1:g.59760994_59760996delinsCCG	GRCh37
NC_000017.9:g.57115776_57115778delinsCCG	NCBI36
NG_007409.2:g.184925_184927delinsCGG , LRG_300:g.184925_184927delinsCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2151_2153delinsCGG
ENST00000682453.1:c.3411_3413delinsCGG	ENSP00000506943.1:p.Asp1138Gly
ENST00000682477.1:c.*2837_*2839delinsCGG	ENSP00000507075.1:n.*2837_*2839delinsCGG
ENST00000682589.1:n.9288_9290delinsCGG
ENST00000682755.1:c.3189_3191delinsCGG	ENSP00000507660.1:p.Asp1064Gly
ENST00000682989.1:c.*502_*504delinsCGG	ENSP00000507786.1:n.*502_*504delinsCGG
ENST00000683039.1:c.3411_3413delinsCGG	ENSP00000508303.1:p.Asp1138Gly
ENST00000683235.1:c.*826_*828delinsCGG	ENSP00000507646.1:n.*826_*828delinsCGG
ENST00000683535.1:n.1541_1543delinsCGG
ENST00000684584.1:c.2574_2576delinsCGG	ENSP00000508044.1:p.Asp859Gly
ENST00000684626.1:n.1657_1659delinsCGG
ENST00000684769.1:c.1601_1603delinsCGG	ENSP00000507691.1:n.1601_1603delinsCGG
ENST00000259008.7:c.3411_3413delinsCGG MANE Select	ENSP00000259008.2:p.Asp1138Gly
ENST00000259008.6:c.3411_3413delinsCGG	ENSP00000259008.2:p.Asp1138Gly
NM_032043.2:c.3411_3413delinsCGG , LRG_300t1:c.3411_3413delinsCGG	NP_114432.2:p.Asp1138Gly
XM_011525332.1:c.3471_3473delinsCGG	XP_011523634.1:p.Asp1158Gly
XM_011525333.1:c.3471_3473delinsCGG	XP_011523635.1:p.Asp1158Gly
XM_011525334.1:c.3471_3473delinsCGG	XP_011523636.1:p.Asp1158Gly
XM_011525335.1:c.3411_3413delinsCGG	XP_011523637.1:p.Asp1138Gly
XM_011525336.1:c.3351_3353delinsCGG	XP_011523638.1:p.Asp1118Gly
XM_011525337.1:c.3270_3272delinsCGG	XP_011523639.1:p.Asp1091Gly
XM_011525338.1:c.2988_2990delinsCGG	XP_011523640.1:p.Asp997Gly
XM_011525332.3:c.3471_3473delinsCGG	XP_011523634.1:p.Asp1158Gly
XM_011525333.3:c.3471_3473delinsCGG	XP_011523635.1:p.Asp1158Gly
XM_011525334.2:c.3471_3473delinsCGG	XP_011523636.1:p.Asp1158Gly
XM_011525335.3:c.3411_3413delinsCGG	XP_011523637.1:p.Asp1138Gly
XM_011525336.2:c.3351_3353delinsCGG	XP_011523638.1:p.Asp1118Gly
XM_011525337.2:c.3270_3272delinsCGG	XP_011523639.1:p.Asp1091Gly
XM_011525338.2:c.2988_2990delinsCGG	XP_011523640.1:p.Asp997Gly
XM_017025200.1:c.2928_2930delinsCGG	XP_016880689.1:p.Asp977Gly
XM_017025201.1:c.2928_2930delinsCGG	XP_016880690.1:p.Asp977Gly
XM_017025202.1:c.1557_1559delinsCGG	XP_016880691.1:p.Asp520Gly
XM_017025203.1:c.1557_1559delinsCGG	XP_016880692.1:p.Asp520Gly
NM_032043.3:c.3411_3413delinsCGG MANE Select	NP_114432.2:p.Asp1138Gly