Canonical Allele Identifier: CA10580774

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 232964
• ClinVar RCV Id: RCV000213148 ; RCV001853608 ; RCV001175603
• dbSNP Id: rs876660100
• MyVariant Identifiers: chr17:g.59760987_59760996del (hg19) ; chr17:g.61683626_61683635del (hg38)
• PubMed: PMID:20068231 ; PMID:22792074

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683627_61683636del , CM000679.2:g.61683627_61683636del	GRCh38
NC_000017.10:g.59760988_59760997del , CM000679.1:g.59760988_59760997del	GRCh37
NC_000017.9:g.57115770_57115779del	NCBI36
NG_007409.2:g.184925_184934del , LRG_300:g.184925_184934del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2151_2160del
ENST00000682453.1:c.3411_3420del	ENSP00000506943.1:p.Tyr1137Ter
ENST00000682477.1:c.*2837_*2846del	ENSP00000507075.1:n.*2837_*2846del
ENST00000682589.1:n.9288_9297del
ENST00000682755.1:c.3189_3198del	ENSP00000507660.1:p.Tyr1063Ter
ENST00000682989.1:c.*502_*511del	ENSP00000507786.1:n.*502_*511del
ENST00000683039.1:c.3411_3420del	ENSP00000508303.1:p.Tyr1137Ter
ENST00000683235.1:c.*826_*835del	ENSP00000507646.1:n.*826_*835del
ENST00000683535.1:n.1541_1550del
ENST00000684584.1:c.2574_2583del	ENSP00000508044.1:p.Tyr858Ter
ENST00000684626.1:n.1657_1666del
ENST00000684769.1:c.1601_1610del	ENSP00000507691.1:n.1601_1610del
ENST00000259008.7:c.3411_3420del MANE Select	ENSP00000259008.2:p.Tyr1137Ter
ENST00000259008.6:c.3411_3420del	ENSP00000259008.2:p.Tyr1137Ter
NM_032043.2:c.3411_3420del , LRG_300t1:c.3411_3420del	NP_114432.2:p.Tyr1137Ter
XM_011525332.1:c.3471_3480del	XP_011523634.1:p.Tyr1157Ter
XM_011525333.1:c.3471_3480del	XP_011523635.1:p.Tyr1157Ter
XM_011525334.1:c.3471_3480del	XP_011523636.1:p.Tyr1157Ter
XM_011525335.1:c.3411_3420del	XP_011523637.1:p.Tyr1137Ter
XM_011525336.1:c.3351_3360del	XP_011523638.1:p.Tyr1117Ter
XM_011525337.1:c.3270_3279del	XP_011523639.1:p.Tyr1090Ter
XM_011525338.1:c.2988_2997del	XP_011523640.1:p.Tyr996Ter
XM_011525332.3:c.3471_3480del	XP_011523634.1:p.Tyr1157Ter
XM_011525333.3:c.3471_3480del	XP_011523635.1:p.Tyr1157Ter
XM_011525334.2:c.3471_3480del	XP_011523636.1:p.Tyr1157Ter
XM_011525335.3:c.3411_3420del	XP_011523637.1:p.Tyr1137Ter
XM_011525336.2:c.3351_3360del	XP_011523638.1:p.Tyr1117Ter
XM_011525337.2:c.3270_3279del	XP_011523639.1:p.Tyr1090Ter
XM_011525338.2:c.2988_2997del	XP_011523640.1:p.Tyr996Ter
XM_017025200.1:c.2928_2937del	XP_016880689.1:p.Tyr976Ter
XM_017025201.1:c.2928_2937del	XP_016880690.1:p.Tyr976Ter
XM_017025202.1:c.1557_1566del	XP_016880691.1:p.Tyr519Ter
XM_017025203.1:c.1557_1566del	XP_016880692.1:p.Tyr519Ter
NM_032043.3:c.3411_3420del MANE Select	NP_114432.2:p.Tyr1137Ter