Canonical Allele Identifier: CA8690413

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 234281
• ClinVar RCV Id: RCV000214087 ; RCV000230820 ; RCV000234901 ; RCV000411728 ; RCV000410664 ; RCV001193526 ; RCV002272183 ; RCV003155936
• dbSNP Id: rs771028677
• ExAC: 17:59761413 CTTTG / C
• gnomAD v2: 17-59761413-CTTTG-C
• gnomAD v3: 17-61684052-CTTTG-C
• gnomAD v4: 17-61684052-CTTTG-C
• COSMIC: COSM5967217
• MyVariant Identifiers: chr17:g.59761414_59761417del (hg19) ; chr17:g.61684053_61684056del (hg38)
• PubMed: PMID:18628483 ; PMID:26315354 ; PMID:26921362

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61684063_61684066del , CM000679.2:g.61684063_61684066del	GRCh38
NC_000017.10:g.59761424_59761427del , CM000679.1:g.59761424_59761427del	GRCh37
NC_000017.9:g.57116206_57116209del	NCBI36
NG_007409.2:g.184504_184507del , LRG_300:g.184504_184507del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1730_1733del
ENST00000682453.1:c.2990_2993del	ENSP00000506943.1:p.Thr997ArgfsTer?
ENST00000682477.1:c.*2416_*2419del	ENSP00000507075.1:n.*2416_*2419del
ENST00000682589.1:n.8867_8870del
ENST00000682755.1:c.2768_2771del	ENSP00000507660.1:p.Thr923ArgfsTer?
ENST00000682989.1:c.*81_*84del	ENSP00000507786.1:n.*81_*84del
ENST00000683039.1:c.2990_2993del	ENSP00000508303.1:p.Thr997ArgfsTer?
ENST00000683235.1:c.*405_*408del	ENSP00000507646.1:n.*405_*408del
ENST00000683535.1:n.1120_1123del
ENST00000684584.1:c.2153_2156del	ENSP00000508044.1:p.Thr718ArgfsTer?
ENST00000684626.1:n.1236_1239del
ENST00000684769.1:c.1180_1183del	ENSP00000507691.1:n.1180_1183del
ENST00000259008.7:c.2990_2993del MANE Select	ENSP00000259008.2:p.Thr997ArgfsTer?
ENST00000259008.6:c.2990_2993del	ENSP00000259008.2:p.Thr997ArgfsTer?
NM_032043.2:c.2990_2993del , LRG_300t1:c.2990_2993del	NP_114432.2:p.Thr997ArgfsTer?
XM_011525332.1:c.3050_3053del	XP_011523634.1:p.Thr1017ArgfsTer?
XM_011525333.1:c.3050_3053del	XP_011523635.1:p.Thr1017ArgfsTer?
XM_011525334.1:c.3050_3053del	XP_011523636.1:p.Thr1017ArgfsTer?
XM_011525335.1:c.2990_2993del	XP_011523637.1:p.Thr997ArgfsTer?
XM_011525336.1:c.2930_2933del	XP_011523638.1:p.Thr977ArgfsTer?
XM_011525337.1:c.2849_2852del	XP_011523639.1:p.Thr950ArgfsTer?
XM_011525338.1:c.2567_2570del	XP_011523640.1:p.Thr856ArgfsTer?
XM_011525332.3:c.3050_3053del	XP_011523634.1:p.Thr1017ArgfsTer?
XM_011525333.3:c.3050_3053del	XP_011523635.1:p.Thr1017ArgfsTer?
XM_011525334.2:c.3050_3053del	XP_011523636.1:p.Thr1017ArgfsTer?
XM_011525335.3:c.2990_2993del	XP_011523637.1:p.Thr997ArgfsTer?
XM_011525336.2:c.2930_2933del	XP_011523638.1:p.Thr977ArgfsTer?
XM_011525337.2:c.2849_2852del	XP_011523639.1:p.Thr950ArgfsTer?
XM_011525338.2:c.2567_2570del	XP_011523640.1:p.Thr856ArgfsTer?
XM_017025200.1:c.2507_2510del	XP_016880689.1:p.Thr836ArgfsTer?
XM_017025201.1:c.2507_2510del	XP_016880690.1:p.Thr836ArgfsTer?
XM_017025202.1:c.1136_1139del	XP_016880691.1:p.Thr379ArgfsTer?
XM_017025203.1:c.1136_1139del	XP_016880692.1:p.Thr379ArgfsTer?
NM_032043.3:c.2990_2993del MANE Select	NP_114432.2:p.Thr997ArgfsTer?