Canonical Allele Identifier: CA2740093828

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 2921911
• ClinVar RCV Id: RCV003782933

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683583_61683595del , CM000679.2:g.61683583_61683595del	GRCh38
NC_000017.10:g.59760944_59760956del , CM000679.1:g.59760944_59760956del	GRCh37
NC_000017.9:g.57115726_57115738del	NCBI36
NG_007409.2:g.184969_184981del , LRG_300:g.184969_184981del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2195_2207del
ENST00000682453.1:c.3455_3467del	ENSP00000506943.1:p.Thr1152IlefsTer11
ENST00000682477.1:c.*2881_*2893del	ENSP00000507075.1:n.*2881_*2893del
ENST00000682589.1:n.9332_9344del
ENST00000682755.1:c.3233_3245del	ENSP00000507660.1:p.Thr1078IlefsTer11
ENST00000682989.1:c.*546_*558del	ENSP00000507786.1:n.*546_*558del
ENST00000683039.1:c.3455_3467del	ENSP00000508303.1:p.Thr1152IlefsTer11
ENST00000683235.1:c.*870_*882del	ENSP00000507646.1:n.*870_*882del
ENST00000683535.1:n.1585_1597del
ENST00000684584.1:c.2618_2630del	ENSP00000508044.1:p.Thr873IlefsTer11
ENST00000684626.1:n.1701_1713del
ENST00000684769.1:c.1645_1657del	ENSP00000507691.1:n.1645_1657del
ENST00000259008.7:c.3455_3467del MANE Select	ENSP00000259008.2:p.Thr1152IlefsTer11
ENST00000259008.6:c.3455_3467del	ENSP00000259008.2:p.Thr1152IlefsTer11
NM_032043.2:c.3455_3467del , LRG_300t1:c.3455_3467del	NP_114432.2:p.Thr1152IlefsTer11
XM_011525332.1:c.3515_3527del	XP_011523634.1:p.Thr1172IlefsTer11
XM_011525333.1:c.3515_3527del	XP_011523635.1:p.Thr1172IlefsTer11
XM_011525334.1:c.3515_3527del	XP_011523636.1:p.Thr1172IlefsTer11
XM_011525335.1:c.3455_3467del	XP_011523637.1:p.Thr1152IlefsTer11
XM_011525336.1:c.3395_3407del	XP_011523638.1:p.Thr1132IlefsTer11
XM_011525337.1:c.3314_3326del	XP_011523639.1:p.Thr1105IlefsTer11
XM_011525338.1:c.3032_3044del	XP_011523640.1:p.Thr1011IlefsTer11
XM_011525332.3:c.3515_3527del	XP_011523634.1:p.Thr1172IlefsTer11
XM_011525333.3:c.3515_3527del	XP_011523635.1:p.Thr1172IlefsTer11
XM_011525334.2:c.3515_3527del	XP_011523636.1:p.Thr1172IlefsTer11
XM_011525335.3:c.3455_3467del	XP_011523637.1:p.Thr1152IlefsTer11
XM_011525336.2:c.3395_3407del	XP_011523638.1:p.Thr1132IlefsTer11
XM_011525337.2:c.3314_3326del	XP_011523639.1:p.Thr1105IlefsTer11
XM_011525338.2:c.3032_3044del	XP_011523640.1:p.Thr1011IlefsTer11
XM_017025200.1:c.2972_2984del	XP_016880689.1:p.Thr991IlefsTer11
XM_017025201.1:c.2972_2984del	XP_016880690.1:p.Thr991IlefsTer11
XM_017025202.1:c.1601_1613del	XP_016880691.1:p.Thr534IlefsTer11
XM_017025203.1:c.1601_1613del	XP_016880692.1:p.Thr534IlefsTer11
NM_032043.3:c.3455_3467del MANE Select	NP_114432.2:p.Thr1152IlefsTer11