Canonical Allele Identifier: CA2582342204

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 2583452
• ClinVar RCV Id: RCV003337123

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61743026_61743028delinsTACAGGTAAAGGAATTCCTATTG , CM000679.2:g.61743026_61743028delinsTACAGGTAAAGGAATTCCTATTG	GRCh38
NC_000017.10:g.59820387_59820389delinsTACAGGTAAAGGAATTCCTATTG , CM000679.1:g.59820387_59820389delinsTACAGGTAAAGGAATTCCTATTG	GRCh37
NC_000017.9:g.57175169_57175171delinsTACAGGTAAAGGAATTCCTATTG	NCBI36
NG_007409.2:g.125532_125534delinsCAATAGGAATTCCTTTACCTGTA , LRG_300:g.125532_125534delinsCAATAGGAATTCCTTTACCTGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584322.2:c.2364_2366delinsCAATAGGAATTCCTTTACCTGTA	ENSP00000463272.2:p.Val789AsnfsTer13
ENST00000682066.1:c.2494_2496delinsCAATAGGAATTCCTTTACCTGTA	ENSP00000507191.1:n.2494_2496delinsCAATAGGAATTCCTTTACCTGTA
ENST00000682073.1:n.1104_1106delinsCAATAGGAATTCCTTTACCTGTA
ENST00000682433.1:n.1443_1445delinsCAATAGGAATTCCTTTACCTGTA
ENST00000682453.1:c.2364_2366delinsCAATAGGAATTCCTTTACCTGTA	ENSP00000506943.1:p.Val789AsnfsTer15
ENST00000682477.1:c.*1790_*1792delinsCAATAGGAATTCCTTTACCTGTA	ENSP00000507075.1:n.*1790_*1792delinsCAATAGGAATTCCTTTACCTGTA
ENST00000682589.1:n.8241_8243delinsCAATAGGAATTCCTTTACCTGTA
ENST00000682755.1:c.2142_2144delinsCAATAGGAATTCCTTTACCTGTA	ENSP00000507660.1:p.Val715AsnfsTer15
ENST00000682989.1:c.2364_2366delinsCAATAGGAATTCCTTTACCTGTA	ENSP00000507786.1:p.Val789AsnfsTer15
ENST00000683039.1:c.2364_2366delinsCAATAGGAATTCCTTTACCTGTA	ENSP00000508303.1:p.Val789AsnfsTer15
ENST00000683235.1:c.2364_2366delinsCAATAGGAATTCCTTTACCTGTA	ENSP00000507646.1:p.Val789AsnfsTer15
ENST00000683381.1:c.2424_2426delinsCAATAGGAATTCCTTTACCTGTA	ENSP00000508184.1:p.Val809AsnfsTer13
ENST00000683535.1:n.494_496delinsCAATAGGAATTCCTTTACCTGTA
ENST00000684471.1:n.777_779delinsCAATAGGAATTCCTTTACCTGTA
ENST00000684584.1:c.1857_1859delinsCAATAGGAATTCCTTTACCTGTA	ENSP00000508044.1:p.Val620AsnfsTer15
ENST00000684769.1:c.429_431delinsCAATAGGAATTCCTTTACCTGTA	ENSP00000507691.1:p.Val144AsnfsTer15
ENST00000259008.7:c.2364_2366delinsCAATAGGAATTCCTTTACCTGTA MANE Select	ENSP00000259008.2:p.Val789AsnfsTer15
ENST00000259008.6:c.2364_2366delinsCAATAGGAATTCCTTTACCTGTA	ENSP00000259008.2:p.Val789AsnfsTer15
ENST00000577598.5:c.2364_2366delinsCAATAGGAATTCCTTTACCTGTA	ENSP00000464654.1:p.Val789AsnfsTer15
ENST00000584322.1:c.347_349delinsCAATAGGAATTCCTTTACCTGTA
NM_032043.2:c.2364_2366delinsCAATAGGAATTCCTTTACCTGTA , LRG_300t1:c.2364_2366delinsCAATAGGAATTCCTTTACCTGTA	NP_114432.2:p.Val789AsnfsTer15
XM_011525332.1:c.2424_2426delinsCAATAGGAATTCCTTTACCTGTA	XP_011523634.1:p.Val809AsnfsTer15
XM_011525333.1:c.2424_2426delinsCAATAGGAATTCCTTTACCTGTA	XP_011523635.1:p.Val809AsnfsTer15
XM_011525334.1:c.2424_2426delinsCAATAGGAATTCCTTTACCTGTA	XP_011523636.1:p.Val809AsnfsTer15
XM_011525335.1:c.2364_2366delinsCAATAGGAATTCCTTTACCTGTA	XP_011523637.1:p.Val789AsnfsTer15
XM_011525336.1:c.2304_2306delinsCAATAGGAATTCCTTTACCTGTA	XP_011523638.1:p.Val769AsnfsTer15
XM_011525337.1:c.2223_2225delinsCAATAGGAATTCCTTTACCTGTA	XP_011523639.1:p.Val742AsnfsTer15
XM_011525338.1:c.1941_1943delinsCAATAGGAATTCCTTTACCTGTA	XP_011523640.1:p.Val648AsnfsTer15
XM_011525339.1:c.2424_2426delinsCAATAGGAATTCCTTTACCTGTA	XP_011523641.1:p.Val809AsnfsTer13
XM_011525340.1:c.2424_2426delinsCAATAGGAATTCCTTTACCTGTA	XP_011523642.1:p.Val809AsnfsTer15
XR_934894.1:n.524-1155_524-1153delinsTACAGGTAAAGGAATTCCTATTG
XM_011525332.3:c.2424_2426delinsCAATAGGAATTCCTTTACCTGTA	XP_011523634.1:p.Val809AsnfsTer15
XM_011525333.3:c.2424_2426delinsCAATAGGAATTCCTTTACCTGTA	XP_011523635.1:p.Val809AsnfsTer15
XM_011525334.2:c.2424_2426delinsCAATAGGAATTCCTTTACCTGTA	XP_011523636.1:p.Val809AsnfsTer15
XM_011525335.3:c.2364_2366delinsCAATAGGAATTCCTTTACCTGTA	XP_011523637.1:p.Val789AsnfsTer15
XM_011525336.2:c.2304_2306delinsCAATAGGAATTCCTTTACCTGTA	XP_011523638.1:p.Val769AsnfsTer15
XM_011525337.2:c.2223_2225delinsCAATAGGAATTCCTTTACCTGTA	XP_011523639.1:p.Val742AsnfsTer15
XM_011525338.2:c.1941_1943delinsCAATAGGAATTCCTTTACCTGTA	XP_011523640.1:p.Val648AsnfsTer15
XM_011525339.3:c.2424_2426delinsCAATAGGAATTCCTTTACCTGTA	XP_011523641.1:p.Val809AsnfsTer13
XM_011525340.3:c.2424_2426delinsCAATAGGAATTCCTTTACCTGTA	XP_011523642.1:p.Val809AsnfsTer15
XM_017025200.1:c.1881_1883delinsCAATAGGAATTCCTTTACCTGTA	XP_016880689.1:p.Val628AsnfsTer15
XM_017025201.1:c.1881_1883delinsCAATAGGAATTCCTTTACCTGTA	XP_016880690.1:p.Val628AsnfsTer15
XM_017025202.1:c.510_512delinsCAATAGGAATTCCTTTACCTGTA	XP_016880691.1:p.Val171AsnfsTer15
XM_017025203.1:c.510_512delinsCAATAGGAATTCCTTTACCTGTA	XP_016880692.1:p.Val171AsnfsTer15
NM_032043.3:c.2364_2366delinsCAATAGGAATTCCTTTACCTGTA MANE Select	NP_114432.2:p.Val789AsnfsTer15