Canonical Allele Identifier: CA8690367

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 229712
• ClinVar RCV Id: RCV000219431 ; RCV000396476 ; RCV000543566 ; RCV000576546 ; RCV000589475 ; RCV001804172 ; RCV003155931 ; RCV003462403
• dbSNP Id: rs778664039
• ExAC: 17:59761013 AATAG / A
• gnomAD v2: 17-59761013-AATAG-A
• gnomAD v3: 17-61683652-AATAG-A
• gnomAD v4: 17-61683652-AATAG-A
• COSMIC: COSM391031
• MyVariant Identifiers: chr17:g.59761014_59761017del (hg19) ; chr17:g.61683653_61683656del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683659_61683662del , CM000679.2:g.61683659_61683662del	GRCh38
NC_000017.10:g.59761020_59761023del , CM000679.1:g.59761020_59761023del	GRCh37
NC_000017.9:g.57115802_57115805del	NCBI36
NG_007409.2:g.184904_184907del , LRG_300:g.184904_184907del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2130_2133del
ENST00000682453.1:c.3390_3393del	ENSP00000506943.1:p.Tyr1131LeufsTer18
ENST00000682477.1:c.*2816_*2819del	ENSP00000507075.1:n.*2816_*2819del
ENST00000682589.1:n.9267_9270del
ENST00000682755.1:c.3168_3171del	ENSP00000507660.1:p.Tyr1057LeufsTer18
ENST00000682989.1:c.*481_*484del	ENSP00000507786.1:n.*481_*484del
ENST00000683039.1:c.3390_3393del	ENSP00000508303.1:p.Tyr1131LeufsTer18
ENST00000683235.1:c.*805_*808del	ENSP00000507646.1:n.*805_*808del
ENST00000683535.1:n.1520_1523del
ENST00000684584.1:c.2553_2556del	ENSP00000508044.1:p.Tyr852LeufsTer18
ENST00000684626.1:n.1636_1639del
ENST00000684769.1:c.1580_1583del	ENSP00000507691.1:n.1580_1583del
ENST00000259008.7:c.3390_3393del MANE Select	ENSP00000259008.2:p.Tyr1131LeufsTer18
ENST00000259008.6:c.3390_3393del	ENSP00000259008.2:p.Tyr1131LeufsTer18
NM_032043.2:c.3390_3393del , LRG_300t1:c.3390_3393del	NP_114432.2:p.Tyr1131LeufsTer18
XM_011525332.1:c.3450_3453del	XP_011523634.1:p.Tyr1151LeufsTer18
XM_011525333.1:c.3450_3453del	XP_011523635.1:p.Tyr1151LeufsTer18
XM_011525334.1:c.3450_3453del	XP_011523636.1:p.Tyr1151LeufsTer18
XM_011525335.1:c.3390_3393del	XP_011523637.1:p.Tyr1131LeufsTer18
XM_011525336.1:c.3330_3333del	XP_011523638.1:p.Tyr1111LeufsTer18
XM_011525337.1:c.3249_3252del	XP_011523639.1:p.Tyr1084LeufsTer18
XM_011525338.1:c.2967_2970del	XP_011523640.1:p.Tyr990LeufsTer18
XM_011525332.3:c.3450_3453del	XP_011523634.1:p.Tyr1151LeufsTer18
XM_011525333.3:c.3450_3453del	XP_011523635.1:p.Tyr1151LeufsTer18
XM_011525334.2:c.3450_3453del	XP_011523636.1:p.Tyr1151LeufsTer18
XM_011525335.3:c.3390_3393del	XP_011523637.1:p.Tyr1131LeufsTer18
XM_011525336.2:c.3330_3333del	XP_011523638.1:p.Tyr1111LeufsTer18
XM_011525337.2:c.3249_3252del	XP_011523639.1:p.Tyr1084LeufsTer18
XM_011525338.2:c.2967_2970del	XP_011523640.1:p.Tyr990LeufsTer18
XM_017025200.1:c.2907_2910del	XP_016880689.1:p.Tyr970LeufsTer18
XM_017025201.1:c.2907_2910del	XP_016880690.1:p.Tyr970LeufsTer18
XM_017025202.1:c.1536_1539del	XP_016880691.1:p.Tyr513LeufsTer18
XM_017025203.1:c.1536_1539del	XP_016880692.1:p.Tyr513LeufsTer18
NM_032043.3:c.3390_3393del MANE Select	NP_114432.2:p.Tyr1131LeufsTer18