Canonical Allele Identifier: CA192794

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 185737
• ClinVar RCV Id: RCV000165215
• dbSNP Id: rs786202415
• MyVariant Identifiers: chr17:g.59876550_59876571del (hg19) ; chr17:g.61799189_61799210del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61799190_61799211del , CM000679.2:g.61799190_61799211del	GRCh38
NC_000017.10:g.59876551_59876572del , CM000679.1:g.59876551_59876572del	GRCh37
NC_000017.9:g.57231333_57231354del	NCBI36
NG_007409.2:g.69350_69371del , LRG_300:g.69350_69371del

Transcript Alleles

HGVS	Amino-acid change
ENST00000579028.2:c.723_744del	ENSP00000463827.2:p.Thr242LeufsTer5
ENST00000584322.2:c.1230_1251del	ENSP00000463272.2:p.Thr411LeufsTer5
ENST00000682066.1:c.723_744del	ENSP00000507191.1:p.Thr242LeufsTer5
ENST00000682453.1:c.1230_1251del	ENSP00000506943.1:p.Thr411LeufsTer5
ENST00000682477.1:c.1230_1251del	ENSP00000507075.1:p.Thr411LeufsTer5
ENST00000682589.1:n.2971_2992del
ENST00000682611.1:c.723_744del	ENSP00000508326.1:p.Thr242LeufsTer5
ENST00000682755.1:c.1008_1029del	ENSP00000507660.1:p.Thr337LeufsTer5
ENST00000682989.1:c.1230_1251del	ENSP00000507786.1:p.Thr411LeufsTer5
ENST00000683039.1:c.1230_1251del	ENSP00000508303.1:p.Thr411LeufsTer5
ENST00000683235.1:c.1230_1251del	ENSP00000507646.1:p.Thr411LeufsTer5
ENST00000683381.1:c.1230_1251del	ENSP00000508184.1:p.Thr411LeufsTer5
ENST00000683692.1:c.808_829del	ENSP00000507964.1:n.808_829del
ENST00000684584.1:c.723_744del	ENSP00000508044.1:p.Thr242LeufsTer5
ENST00000259008.7:c.1230_1251del MANE Select	ENSP00000259008.2:p.Thr411LeufsTer5
ENST00000259008.6:c.1230_1251del	ENSP00000259008.2:p.Thr411LeufsTer5
ENST00000577598.5:c.1230_1251del	ENSP00000464654.1:p.Thr411LeufsTer5
NM_032043.2:c.1230_1251del , LRG_300t1:c.1230_1251del	NP_114432.2:p.Thr411LeufsTer5
XM_011525332.1:c.1230_1251del	XP_011523634.1:p.Thr411LeufsTer5
XM_011525333.1:c.1230_1251del	XP_011523635.1:p.Thr411LeufsTer5
XM_011525334.1:c.1230_1251del	XP_011523636.1:p.Thr411LeufsTer5
XM_011525335.1:c.1230_1251del	XP_011523637.1:p.Thr411LeufsTer5
XM_011525336.1:c.1230_1251del	XP_011523638.1:p.Thr411LeufsTer5
XM_011525337.1:c.1230_1251del	XP_011523639.1:p.Thr411LeufsTer5
XM_011525338.1:c.747_768del	XP_011523640.1:p.Thr250LeufsTer5
XM_011525339.1:c.1230_1251del	XP_011523641.1:p.Thr411LeufsTer5
XM_011525340.1:c.1230_1251del	XP_011523642.1:p.Thr411LeufsTer5
XM_011525341.1:c.1230_1251del	XP_011523643.1:p.Thr411LeufsTer5
XM_011525332.3:c.1230_1251del	XP_011523634.1:p.Thr411LeufsTer5
XM_011525333.3:c.1230_1251del	XP_011523635.1:p.Thr411LeufsTer5
XM_011525334.2:c.1230_1251del	XP_011523636.1:p.Thr411LeufsTer5
XM_011525335.3:c.1230_1251del	XP_011523637.1:p.Thr411LeufsTer5
XM_011525336.2:c.1230_1251del	XP_011523638.1:p.Thr411LeufsTer5
XM_011525337.2:c.1230_1251del	XP_011523639.1:p.Thr411LeufsTer5
XM_011525338.2:c.747_768del	XP_011523640.1:p.Thr250LeufsTer5
XM_011525339.3:c.1230_1251del	XP_011523641.1:p.Thr411LeufsTer5
XM_011525340.3:c.1230_1251del	XP_011523642.1:p.Thr411LeufsTer5
XM_011525341.3:c.1230_1251del	XP_011523643.1:p.Thr411LeufsTer5
XM_017025200.1:c.747_768del	XP_016880689.1:p.Thr250LeufsTer5
XM_017025201.1:c.687_708del	XP_016880690.1:p.Thr230LeufsTer5
NM_032043.3:c.1230_1251del MANE Select	NP_114432.2:p.Thr411LeufsTer5