Canonical Allele Identifier: CA16620506

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 419945
• ClinVar RCV Id: RCV000482446 ; RCV000802727 ; RCV001020755
• dbSNP Id: rs1064794200
• MyVariant Identifiers: chr17:g.59760776_59760778del (hg19) ; chr17:g.61683415_61683417del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683417_61683419del , CM000679.2:g.61683417_61683419del	GRCh38
NC_000017.10:g.59760778_59760780del , CM000679.1:g.59760778_59760780del	GRCh37
NC_000017.9:g.57115560_57115562del	NCBI36
NG_007409.2:g.185143_185145del , LRG_300:g.185143_185145del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2369_2371del
ENST00000682453.1:c.3629_3631del	ENSP00000506943.1:p.Asp1210del
ENST00000682477.1:c.*3055_*3057del	ENSP00000507075.1:n.*3055_*3057del
ENST00000682589.1:n.9506_9508del
ENST00000682755.1:c.3407_3409del	ENSP00000507660.1:p.Asp1136del
ENST00000682989.1:c.*720_*722del	ENSP00000507786.1:n.*720_*722del
ENST00000683039.1:c.3629_3631del	ENSP00000508303.1:p.Asp1210del
ENST00000683235.1:c.*1044_*1046del	ENSP00000507646.1:n.*1044_*1046del
ENST00000683535.1:n.1759_1761del
ENST00000684584.1:c.2792_2794del	ENSP00000508044.1:p.Asp931del
ENST00000684626.1:n.1875_1877del
ENST00000684769.1:c.1819_1821del	ENSP00000507691.1:n.1819_1821del
ENST00000259008.7:c.3629_3631del MANE Select	ENSP00000259008.2:p.Asp1210del
ENST00000259008.6:c.3629_3631del	ENSP00000259008.2:p.Asp1210del
NM_032043.2:c.3629_3631del , LRG_300t1:c.3629_3631del	NP_114432.2:p.Asp1210del
XM_011525332.1:c.3689_3691del	XP_011523634.1:p.Asp1230del
XM_011525333.1:c.3689_3691del	XP_011523635.1:p.Asp1230del
XM_011525334.1:c.3689_3691del	XP_011523636.1:p.Asp1230del
XM_011525335.1:c.3629_3631del	XP_011523637.1:p.Asp1210del
XM_011525336.1:c.3569_3571del	XP_011523638.1:p.Asp1190del
XM_011525337.1:c.3488_3490del	XP_011523639.1:p.Asp1163del
XM_011525338.1:c.3206_3208del	XP_011523640.1:p.Asp1069del
XM_011525332.3:c.3689_3691del	XP_011523634.1:p.Asp1230del
XM_011525333.3:c.3689_3691del	XP_011523635.1:p.Asp1230del
XM_011525334.2:c.3689_3691del	XP_011523636.1:p.Asp1230del
XM_011525335.3:c.3629_3631del	XP_011523637.1:p.Asp1210del
XM_011525336.2:c.3569_3571del	XP_011523638.1:p.Asp1190del
XM_011525337.2:c.3488_3490del	XP_011523639.1:p.Asp1163del
XM_011525338.2:c.3206_3208del	XP_011523640.1:p.Asp1069del
XM_017025200.1:c.3146_3148del	XP_016880689.1:p.Asp1049del
XM_017025201.1:c.3146_3148del	XP_016880690.1:p.Asp1049del
XM_017025202.1:c.1775_1777del	XP_016880691.1:p.Asp592del
XM_017025203.1:c.1775_1777del	XP_016880692.1:p.Asp592del
NM_032043.3:c.3629_3631del MANE Select	NP_114432.2:p.Asp1210del