Canonical Allele Identifier: CA2740093848

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 2953826
• ClinVar RCV Id: RCV003813049

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61743086_61743091del , CM000679.2:g.61743086_61743091del	GRCh38
NC_000017.10:g.59820447_59820452del , CM000679.1:g.59820447_59820452del	GRCh37
NC_000017.9:g.57175229_57175234del	NCBI36
NG_007409.2:g.125471_125476del , LRG_300:g.125471_125476del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584322.2:c.2303_2308del	ENSP00000463272.2:p.Gly768_Leu769del
ENST00000682066.1:c.2433_2438del	ENSP00000507191.1:n.2433_2438del
ENST00000682073.1:n.1043_1048del
ENST00000682433.1:n.1382_1387del
ENST00000682453.1:c.2303_2308del	ENSP00000506943.1:p.Gly768_Leu769del
ENST00000682477.1:c.*1729_*1734del	ENSP00000507075.1:n.*1729_*1734del
ENST00000682589.1:n.8180_8185del
ENST00000682755.1:c.2081_2086del	ENSP00000507660.1:p.Gly694_Leu695del
ENST00000682989.1:c.2303_2308del	ENSP00000507786.1:p.Gly768_Leu769del
ENST00000683039.1:c.2303_2308del	ENSP00000508303.1:p.Gly768_Leu769del
ENST00000683235.1:c.2303_2308del	ENSP00000507646.1:p.Gly768_Leu769del
ENST00000683381.1:c.2363_2368del	ENSP00000508184.1:p.Gly788_Leu789del
ENST00000683535.1:n.433_438del
ENST00000684471.1:n.716_721del
ENST00000684584.1:c.1796_1801del	ENSP00000508044.1:p.Gly599_Leu600del
ENST00000684769.1:c.368_373del	ENSP00000507691.1:p.Gly123_Leu124del
ENST00000259008.7:c.2303_2308del MANE Select	ENSP00000259008.2:p.Gly768_Leu769del
ENST00000259008.6:c.2303_2308del	ENSP00000259008.2:p.Gly768_Leu769del
ENST00000577598.5:c.2303_2308del	ENSP00000464654.1:p.Gly768_Leu769del
ENST00000584322.1:c.286_291del
NM_032043.2:c.2303_2308del , LRG_300t1:c.2303_2308del	NP_114432.2:p.Gly768_Leu769del
XM_011525332.1:c.2363_2368del	XP_011523634.1:p.Gly788_Leu789del
XM_011525333.1:c.2363_2368del	XP_011523635.1:p.Gly788_Leu789del
XM_011525334.1:c.2363_2368del	XP_011523636.1:p.Gly788_Leu789del
XM_011525335.1:c.2303_2308del	XP_011523637.1:p.Gly768_Leu769del
XM_011525336.1:c.2243_2248del	XP_011523638.1:p.Gly748_Leu749del
XM_011525337.1:c.2162_2167del	XP_011523639.1:p.Gly721_Leu722del
XM_011525338.1:c.1880_1885del	XP_011523640.1:p.Gly627_Leu628del
XM_011525339.1:c.2363_2368del	XP_011523641.1:p.Gly788_Leu789del
XM_011525340.1:c.2363_2368del	XP_011523642.1:p.Gly788_Leu789del
XR_934894.1:n.524-1095_524-1090del
XM_011525332.3:c.2363_2368del	XP_011523634.1:p.Gly788_Leu789del
XM_011525333.3:c.2363_2368del	XP_011523635.1:p.Gly788_Leu789del
XM_011525334.2:c.2363_2368del	XP_011523636.1:p.Gly788_Leu789del
XM_011525335.3:c.2303_2308del	XP_011523637.1:p.Gly768_Leu769del
XM_011525336.2:c.2243_2248del	XP_011523638.1:p.Gly748_Leu749del
XM_011525337.2:c.2162_2167del	XP_011523639.1:p.Gly721_Leu722del
XM_011525338.2:c.1880_1885del	XP_011523640.1:p.Gly627_Leu628del
XM_011525339.3:c.2363_2368del	XP_011523641.1:p.Gly788_Leu789del
XM_011525340.3:c.2363_2368del	XP_011523642.1:p.Gly788_Leu789del
XM_017025200.1:c.1820_1825del	XP_016880689.1:p.Gly607_Leu608del
XM_017025201.1:c.1820_1825del	XP_016880690.1:p.Gly607_Leu608del
XM_017025202.1:c.449_454del	XP_016880691.1:p.Gly150_Leu151del
XM_017025203.1:c.449_454del	XP_016880692.1:p.Gly150_Leu151del
NM_032043.3:c.2303_2308del MANE Select	NP_114432.2:p.Gly768_Leu769del