Canonical Allele Identifier: CA8690387

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 461046
• ClinVar RCV Id: RCV000552971 ; RCV001019231 ; RCV001284119 ; RCV003459207 ; RCV003235277
• dbSNP Id: rs748598593
• ExAC: 17:59761198 GA / G
• gnomAD v2: 17-59761198-GA-G
• MyVariant Identifiers: chr17:g.59761199del (hg19) ; chr17:g.61683838del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683838del , CM000679.2:g.61683838del	GRCh38
NC_000017.10:g.59761199del , CM000679.1:g.59761199del	GRCh37
NC_000017.9:g.57115981del	NCBI36
NG_007409.2:g.184722del , LRG_300:g.184722del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1948del
ENST00000682453.1:c.3208del	ENSP00000506943.1:p.Ser1070GlnfsTer8
ENST00000682477.1:c.*2634del	ENSP00000507075.1:n.*2634del
ENST00000682589.1:n.9085del
ENST00000682755.1:c.2986del	ENSP00000507660.1:p.Ser996GlnfsTer8
ENST00000682989.1:c.*299del	ENSP00000507786.1:n.*299del
ENST00000683039.1:c.3208del	ENSP00000508303.1:p.Ser1070GlnfsTer8
ENST00000683235.1:c.*623del	ENSP00000507646.1:n.*623del
ENST00000683535.1:n.1338del
ENST00000684584.1:c.2371del	ENSP00000508044.1:p.Ser791GlnfsTer8
ENST00000684626.1:n.1454del
ENST00000684769.1:c.1398del	ENSP00000507691.1:n.1398del
ENST00000259008.7:c.3208del MANE Select	ENSP00000259008.2:p.Ser1070GlnfsTer8
ENST00000259008.6:c.3208del	ENSP00000259008.2:p.Ser1070GlnfsTer8
NM_032043.2:c.3208del , LRG_300t1:c.3208del	NP_114432.2:p.Ser1070GlnfsTer8
XM_011525332.1:c.3268del	XP_011523634.1:p.Ser1090GlnfsTer8
XM_011525333.1:c.3268del	XP_011523635.1:p.Ser1090GlnfsTer8
XM_011525334.1:c.3268del	XP_011523636.1:p.Ser1090GlnfsTer8
XM_011525335.1:c.3208del	XP_011523637.1:p.Ser1070GlnfsTer8
XM_011525336.1:c.3148del	XP_011523638.1:p.Ser1050GlnfsTer8
XM_011525337.1:c.3067del	XP_011523639.1:p.Ser1023GlnfsTer8
XM_011525338.1:c.2785del	XP_011523640.1:p.Ser929GlnfsTer8
XM_011525332.3:c.3268del	XP_011523634.1:p.Ser1090GlnfsTer8
XM_011525333.3:c.3268del	XP_011523635.1:p.Ser1090GlnfsTer8
XM_011525334.2:c.3268del	XP_011523636.1:p.Ser1090GlnfsTer8
XM_011525335.3:c.3208del	XP_011523637.1:p.Ser1070GlnfsTer8
XM_011525336.2:c.3148del	XP_011523638.1:p.Ser1050GlnfsTer8
XM_011525337.2:c.3067del	XP_011523639.1:p.Ser1023GlnfsTer8
XM_011525338.2:c.2785del	XP_011523640.1:p.Ser929GlnfsTer8
XM_017025200.1:c.2725del	XP_016880689.1:p.Ser909GlnfsTer8
XM_017025201.1:c.2725del	XP_016880690.1:p.Ser909GlnfsTer8
XM_017025202.1:c.1354del	XP_016880691.1:p.Ser452GlnfsTer8
XM_017025203.1:c.1354del	XP_016880692.1:p.Ser452GlnfsTer8
NM_032043.3:c.3208del MANE Select	NP_114432.2:p.Ser1070GlnfsTer8