Canonical Allele Identifier: CA10650610

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 324337
• ClinVar RCV Id: RCV000350710 ; RCV000396105
• dbSNP Id: rs546666211
• gnomAD v2: 17-59760259-CAG-C
• gnomAD v3: 17-61682898-CAG-C
• gnomAD v4: 17-61682898-CAG-C
• MyVariant Identifiers: chr17:g.59760260_59760261del (hg19) ; chr17:g.61682899_61682900del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61682902_61682903del , CM000679.2:g.61682902_61682903del	GRCh38
NC_000017.10:g.59760263_59760264del , CM000679.1:g.59760263_59760264del	GRCh37
NC_000017.9:g.57115045_57115046del	NCBI36
NG_007409.2:g.185660_185661del , LRG_300:g.185660_185661del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2886_2887del
ENST00000682453.1:c.*396_*397del	ENSP00000506943.1:n.*396_*397del
ENST00000682477.1:c.*3572_*3573del	ENSP00000507075.1:n.*3572_*3573del
ENST00000682589.1:n.10023_10024del
ENST00000682755.1:c.*396_*397del	ENSP00000507660.1:n.*396_*397del
ENST00000682989.1:c.*1237_*1238del	ENSP00000507786.1:n.*1237_*1238del
ENST00000683039.1:c.*396_*397del	ENSP00000508303.1:n.*396_*397del
ENST00000683235.1:c.*1561_*1562del	ENSP00000507646.1:n.*1561_*1562del
ENST00000683535.1:n.2276_2277del
ENST00000684584.1:c.3309_3310del	ENSP00000508044.1:n.3309_3310del
ENST00000684626.1:n.2392_2393del
ENST00000684769.1:c.2336_2337del	ENSP00000507691.1:n.2336_2337del
ENST00000259008.7:c.*396_*397del MANE Select	ENSP00000259008.2:n.*396_*397del
ENST00000259008.6:c.*396_*397del	ENSP00000259008.2:n.*396_*397del
NM_032043.2:c.*396_*397del , LRG_300t1:c.*396_*397del	NP_114432.2:n.*396_*397del
XM_011525332.1:c.*396_*397del	XP_011523634.1:n.*396_*397del
XM_011525333.1:c.*396_*397del	XP_011523635.1:n.*396_*397del
XM_011525334.1:c.*396_*397del	XP_011523636.1:n.*396_*397del
XM_011525335.1:c.*396_*397del	XP_011523637.1:n.*396_*397del
XM_011525336.1:c.*396_*397del	XP_011523638.1:n.*396_*397del
XM_011525337.1:c.*396_*397del	XP_011523639.1:n.*396_*397del
XM_011525338.1:c.*396_*397del	XP_011523640.1:n.*396_*397del
XM_011525332.3:c.*396_*397del	XP_011523634.1:n.*396_*397del
XM_011525333.3:c.*396_*397del	XP_011523635.1:n.*396_*397del
XM_011525334.2:c.*396_*397del	XP_011523636.1:n.*396_*397del
XM_011525335.3:c.*396_*397del	XP_011523637.1:n.*396_*397del
XM_011525336.2:c.*396_*397del	XP_011523638.1:n.*396_*397del
XM_011525337.2:c.*396_*397del	XP_011523639.1:n.*396_*397del
XM_011525338.2:c.*396_*397del	XP_011523640.1:n.*396_*397del
XM_017025200.1:c.*396_*397del	XP_016880689.1:n.*396_*397del
XM_017025201.1:c.*396_*397del	XP_016880690.1:n.*396_*397del
XM_017025202.1:c.*396_*397del	XP_016880691.1:n.*396_*397del
XM_017025203.1:c.*396_*397del	XP_016880692.1:n.*396_*397del
NM_032043.3:c.*396_*397del MANE Select	NP_114432.2:n.*396_*397del