Canonical Allele Identifier: CA915950680

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 823899
• ClinVar RCV Id: RCV001020548 ; RCV003769531
• dbSNP Id: rs1603274921

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683510_61683512del , CM000679.2:g.61683510_61683512del	GRCh38
NC_000017.10:g.59760871_59760873del , CM000679.1:g.59760871_59760873del	GRCh37
NC_000017.9:g.57115653_57115655del	NCBI36
NG_007409.2:g.185050_185052del , LRG_300:g.185050_185052del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2276_2278del
ENST00000682453.1:c.3536_3538del	ENSP00000506943.1:p.Val1179del
ENST00000682477.1:c.*2962_*2964del	ENSP00000507075.1:n.*2962_*2964del
ENST00000682589.1:n.9413_9415del
ENST00000682755.1:c.3314_3316del	ENSP00000507660.1:p.Val1105del
ENST00000682989.1:c.*627_*629del	ENSP00000507786.1:n.*627_*629del
ENST00000683039.1:c.3536_3538del	ENSP00000508303.1:p.Val1179del
ENST00000683235.1:c.*951_*953del	ENSP00000507646.1:n.*951_*953del
ENST00000683535.1:n.1666_1668del
ENST00000684584.1:c.2699_2701del	ENSP00000508044.1:p.Val900del
ENST00000684626.1:n.1782_1784del
ENST00000684769.1:c.1726_1728del	ENSP00000507691.1:n.1726_1728del
ENST00000259008.7:c.3536_3538del MANE Select	ENSP00000259008.2:p.Val1179del
ENST00000259008.6:c.3536_3538del	ENSP00000259008.2:p.Val1179del
NM_032043.2:c.3536_3538del , LRG_300t1:c.3536_3538del	NP_114432.2:p.Val1179del
XM_011525332.1:c.3596_3598del	XP_011523634.1:p.Val1199del
XM_011525333.1:c.3596_3598del	XP_011523635.1:p.Val1199del
XM_011525334.1:c.3596_3598del	XP_011523636.1:p.Val1199del
XM_011525335.1:c.3536_3538del	XP_011523637.1:p.Val1179del
XM_011525336.1:c.3476_3478del	XP_011523638.1:p.Val1159del
XM_011525337.1:c.3395_3397del	XP_011523639.1:p.Val1132del
XM_011525338.1:c.3113_3115del	XP_011523640.1:p.Val1038del
XM_011525332.3:c.3596_3598del	XP_011523634.1:p.Val1199del
XM_011525333.3:c.3596_3598del	XP_011523635.1:p.Val1199del
XM_011525334.2:c.3596_3598del	XP_011523636.1:p.Val1199del
XM_011525335.3:c.3536_3538del	XP_011523637.1:p.Val1179del
XM_011525336.2:c.3476_3478del	XP_011523638.1:p.Val1159del
XM_011525337.2:c.3395_3397del	XP_011523639.1:p.Val1132del
XM_011525338.2:c.3113_3115del	XP_011523640.1:p.Val1038del
XM_017025200.1:c.3053_3055del	XP_016880689.1:p.Val1018del
XM_017025201.1:c.3053_3055del	XP_016880690.1:p.Val1018del
XM_017025202.1:c.1682_1684del	XP_016880691.1:p.Val561del
XM_017025203.1:c.1682_1684del	XP_016880692.1:p.Val561del
NM_032043.3:c.3536_3538del MANE Select	NP_114432.2:p.Val1179del