Canonical Allele Identifier: CA627146457

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 629477
• ClinVar RCV Id: RCV000774184 ; RCV001215436 ; RCV001284124 ; RCV003155309
• dbSNP Id: rs1426528935
• gnomAD v2: 17-59761035-TTC-T
• gnomAD v4: 17-61683674-TTC-T
• MyVariant Identifiers: chr17:g.59761036_59761037del (hg19) ; chr17:g.61683675_61683676del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683676_61683677del , CM000679.2:g.61683676_61683677del	GRCh38
NC_000017.10:g.59761037_59761038del , CM000679.1:g.59761037_59761038del	GRCh37
NC_000017.9:g.57115819_57115820del	NCBI36
NG_007409.2:g.184884_184885del , LRG_300:g.184884_184885del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2110_2111del
ENST00000682453.1:c.3370_3371del	ENSP00000506943.1:p.Glu1124SerfsTer4
ENST00000682477.1:c.*2796_*2797del	ENSP00000507075.1:n.*2796_*2797del
ENST00000682589.1:n.9247_9248del
ENST00000682755.1:c.3148_3149del	ENSP00000507660.1:p.Glu1050SerfsTer4
ENST00000682989.1:c.*461_*462del	ENSP00000507786.1:n.*461_*462del
ENST00000683039.1:c.3370_3371del	ENSP00000508303.1:p.Glu1124SerfsTer4
ENST00000683235.1:c.*785_*786del	ENSP00000507646.1:n.*785_*786del
ENST00000683535.1:n.1500_1501del
ENST00000684584.1:c.2533_2534del	ENSP00000508044.1:p.Glu845SerfsTer4
ENST00000684626.1:n.1616_1617del
ENST00000684769.1:c.1560_1561del	ENSP00000507691.1:n.1560_1561del
ENST00000259008.7:c.3370_3371del MANE Select	ENSP00000259008.2:p.Glu1124SerfsTer4
ENST00000259008.6:c.3370_3371del	ENSP00000259008.2:p.Glu1124SerfsTer4
NM_032043.2:c.3370_3371del , LRG_300t1:c.3370_3371del	NP_114432.2:p.Glu1124SerfsTer4
XM_011525332.1:c.3430_3431del	XP_011523634.1:p.Glu1144SerfsTer4
XM_011525333.1:c.3430_3431del	XP_011523635.1:p.Glu1144SerfsTer4
XM_011525334.1:c.3430_3431del	XP_011523636.1:p.Glu1144SerfsTer4
XM_011525335.1:c.3370_3371del	XP_011523637.1:p.Glu1124SerfsTer4
XM_011525336.1:c.3310_3311del	XP_011523638.1:p.Glu1104SerfsTer4
XM_011525337.1:c.3229_3230del	XP_011523639.1:p.Glu1077SerfsTer4
XM_011525338.1:c.2947_2948del	XP_011523640.1:p.Glu983SerfsTer4
XM_011525332.3:c.3430_3431del	XP_011523634.1:p.Glu1144SerfsTer4
XM_011525333.3:c.3430_3431del	XP_011523635.1:p.Glu1144SerfsTer4
XM_011525334.2:c.3430_3431del	XP_011523636.1:p.Glu1144SerfsTer4
XM_011525335.3:c.3370_3371del	XP_011523637.1:p.Glu1124SerfsTer4
XM_011525336.2:c.3310_3311del	XP_011523638.1:p.Glu1104SerfsTer4
XM_011525337.2:c.3229_3230del	XP_011523639.1:p.Glu1077SerfsTer4
XM_011525338.2:c.2947_2948del	XP_011523640.1:p.Glu983SerfsTer4
XM_017025200.1:c.2887_2888del	XP_016880689.1:p.Glu963SerfsTer4
XM_017025201.1:c.2887_2888del	XP_016880690.1:p.Glu963SerfsTer4
XM_017025202.1:c.1516_1517del	XP_016880691.1:p.Glu506SerfsTer4
XM_017025203.1:c.1516_1517del	XP_016880692.1:p.Glu506SerfsTer4
NM_032043.3:c.3370_3371del MANE Select	NP_114432.2:p.Glu1124SerfsTer4