Canonical Allele Identifier: CA658658649

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 461151
• ClinVar RCV Id: RCV000536947
• dbSNP Id: rs1555572620

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683634_61683635delinsGG , CM000679.2:g.61683634_61683635delinsGG	GRCh38
NC_000017.10:g.59760995_59760996delinsGG , CM000679.1:g.59760995_59760996delinsGG	GRCh37
NC_000017.9:g.57115777_57115778delinsGG	NCBI36
NG_007409.2:g.184925_184926delinsCC , LRG_300:g.184925_184926delinsCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2151_2152delinsCC
ENST00000682453.1:c.3411_3412delinsCC	ENSP00000506943.1:p.Asp1138His
ENST00000682477.1:c.*2837_*2838delinsCC	ENSP00000507075.1:n.*2837_*2838delinsCC
ENST00000682589.1:n.9288_9289delinsCC
ENST00000682755.1:c.3189_3190delinsCC	ENSP00000507660.1:p.Asp1064His
ENST00000682989.1:c.*502_*503delinsCC	ENSP00000507786.1:n.*502_*503delinsCC
ENST00000683039.1:c.3411_3412delinsCC	ENSP00000508303.1:p.Asp1138His
ENST00000683235.1:c.*826_*827delinsCC	ENSP00000507646.1:n.*826_*827delinsCC
ENST00000683535.1:n.1541_1542delinsCC
ENST00000684584.1:c.2574_2575delinsCC	ENSP00000508044.1:p.Asp859His
ENST00000684626.1:n.1657_1658delinsCC
ENST00000684769.1:c.1601_1602delinsCC	ENSP00000507691.1:n.1601_1602delinsCC
ENST00000259008.7:c.3411_3412delinsCC MANE Select	ENSP00000259008.2:p.Asp1138His
ENST00000259008.6:c.3411_3412delinsCC	ENSP00000259008.2:p.Asp1138His
NM_032043.2:c.3411_3412delinsCC , LRG_300t1:c.3411_3412delinsCC	NP_114432.2:p.Asp1138His
XM_011525332.1:c.3471_3472delinsCC	XP_011523634.1:p.Asp1158His
XM_011525333.1:c.3471_3472delinsCC	XP_011523635.1:p.Asp1158His
XM_011525334.1:c.3471_3472delinsCC	XP_011523636.1:p.Asp1158His
XM_011525335.1:c.3411_3412delinsCC	XP_011523637.1:p.Asp1138His
XM_011525336.1:c.3351_3352delinsCC	XP_011523638.1:p.Asp1118His
XM_011525337.1:c.3270_3271delinsCC	XP_011523639.1:p.Asp1091His
XM_011525338.1:c.2988_2989delinsCC	XP_011523640.1:p.Asp997His
XM_011525332.3:c.3471_3472delinsCC	XP_011523634.1:p.Asp1158His
XM_011525333.3:c.3471_3472delinsCC	XP_011523635.1:p.Asp1158His
XM_011525334.2:c.3471_3472delinsCC	XP_011523636.1:p.Asp1158His
XM_011525335.3:c.3411_3412delinsCC	XP_011523637.1:p.Asp1138His
XM_011525336.2:c.3351_3352delinsCC	XP_011523638.1:p.Asp1118His
XM_011525337.2:c.3270_3271delinsCC	XP_011523639.1:p.Asp1091His
XM_011525338.2:c.2988_2989delinsCC	XP_011523640.1:p.Asp997His
XM_017025200.1:c.2928_2929delinsCC	XP_016880689.1:p.Asp977His
XM_017025201.1:c.2928_2929delinsCC	XP_016880690.1:p.Asp977His
XM_017025202.1:c.1557_1558delinsCC	XP_016880691.1:p.Asp520His
XM_017025203.1:c.1557_1558delinsCC	XP_016880692.1:p.Asp520His
NM_032043.3:c.3411_3412delinsCC MANE Select	NP_114432.2:p.Asp1138His