Canonical Allele Identifier: CA627146471

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 461045
• ClinVar RCV Id: RCV000540342 ; RCV000584109 ; RCV001194736 ; RCV002307533 ; RCV003159788
• dbSNP Id: rs1342519012
• gnomAD v2: 17-59761334-AC-A
• gnomAD v4: 17-61683973-AC-A
• MyVariant Identifiers: chr17:g.59761335del (hg19) ; chr17:g.61683974del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683976del , CM000679.2:g.61683976del	GRCh38
NC_000017.10:g.59761337del , CM000679.1:g.59761337del	GRCh37
NC_000017.9:g.57116119del	NCBI36
NG_007409.2:g.184586del , LRG_300:g.184586del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682073.1:n.1812del
ENST00000682453.1:c.3072del	ENSP00000506943.1:p.Ser1025HisfsTer?
ENST00000682477.1:c.*2498del	ENSP00000507075.1:n.*2498del
ENST00000682589.1:n.8949del
ENST00000682755.1:c.2850del	ENSP00000507660.1:p.Ser951HisfsTer?
ENST00000682989.1:c.*163del	ENSP00000507786.1:n.*163del
ENST00000683039.1:c.3072del	ENSP00000508303.1:p.Ser1025HisfsTer?
ENST00000683235.1:c.*487del	ENSP00000507646.1:n.*487del
ENST00000683535.1:n.1202del
ENST00000684584.1:c.2235del	ENSP00000508044.1:p.Ser746HisfsTer?
ENST00000684626.1:n.1318del
ENST00000684769.1:c.1262del	ENSP00000507691.1:n.1262del
ENST00000259008.7:c.3072del MANE Select	ENSP00000259008.2:p.Ser1025HisfsTer?
ENST00000259008.6:c.3072del	ENSP00000259008.2:p.Ser1025HisfsTer?
NM_032043.2:c.3072del , LRG_300t1:c.3072del	NP_114432.2:p.Ser1025HisfsTer?
XM_011525332.1:c.3132del	XP_011523634.1:p.Ser1045HisfsTer?
XM_011525333.1:c.3132del	XP_011523635.1:p.Ser1045HisfsTer?
XM_011525334.1:c.3132del	XP_011523636.1:p.Ser1045HisfsTer?
XM_011525335.1:c.3072del	XP_011523637.1:p.Ser1025HisfsTer?
XM_011525336.1:c.3012del	XP_011523638.1:p.Ser1005HisfsTer?
XM_011525337.1:c.2931del	XP_011523639.1:p.Ser978HisfsTer?
XM_011525338.1:c.2649del	XP_011523640.1:p.Ser884HisfsTer?
XM_011525332.3:c.3132del	XP_011523634.1:p.Ser1045HisfsTer?
XM_011525333.3:c.3132del	XP_011523635.1:p.Ser1045HisfsTer?
XM_011525334.2:c.3132del	XP_011523636.1:p.Ser1045HisfsTer?
XM_011525335.3:c.3072del	XP_011523637.1:p.Ser1025HisfsTer?
XM_011525336.2:c.3012del	XP_011523638.1:p.Ser1005HisfsTer?
XM_011525337.2:c.2931del	XP_011523639.1:p.Ser978HisfsTer?
XM_011525338.2:c.2649del	XP_011523640.1:p.Ser884HisfsTer?
XM_017025200.1:c.2589del	XP_016880689.1:p.Ser864HisfsTer?
XM_017025201.1:c.2589del	XP_016880690.1:p.Ser864HisfsTer?
XM_017025202.1:c.1218del	XP_016880691.1:p.Ser407HisfsTer?
XM_017025203.1:c.1218del	XP_016880692.1:p.Ser407HisfsTer?
NM_032043.3:c.3072del MANE Select	NP_114432.2:p.Ser1025HisfsTer?