Canonical Allele Identifier: CA2269131031

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683849_61683850delinsGA , CM000679.2:g.61683849_61683850delinsGA	GRCh38
NC_000017.10:g.59761210_59761211delinsGA , CM000679.1:g.59761210_59761211delinsGA	GRCh37
NC_000017.9:g.57115992_57115993delinsGA	NCBI36
NG_007409.2:g.184710_184711delinsTC , LRG_300:g.184710_184711delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1936_1937delinsTC
ENST00000682453.1:c.3196_3197delinsTC	ENSP00000506943.1:p.Ser1066=
ENST00000682477.1:c.*2622_*2623delinsTC	ENSP00000507075.1:n.*2622_*2623delinsTC
ENST00000682589.1:n.9073_9074delinsTC
ENST00000682755.1:c.2974_2975delinsTC	ENSP00000507660.1:p.Ser992=
ENST00000682989.1:c.*287_*288delinsTC	ENSP00000507786.1:n.*287_*288delinsTC
ENST00000683039.1:c.3196_3197delinsTC	ENSP00000508303.1:p.Ser1066=
ENST00000683235.1:c.*611_*612delinsTC	ENSP00000507646.1:n.*611_*612delinsTC
ENST00000683535.1:n.1326_1327delinsTC
ENST00000684584.1:c.2359_2360delinsTC	ENSP00000508044.1:p.Ser787=
ENST00000684626.1:n.1442_1443delinsTC
ENST00000684769.1:c.1386_1387delinsTC	ENSP00000507691.1:n.1386_1387delinsTC
ENST00000259008.7:c.3196_3197delinsTC MANE Select	ENSP00000259008.2:p.Ser1066=
ENST00000259008.6:c.3196_3197delinsTC	ENSP00000259008.2:p.Ser1066=
NM_032043.2:c.3196_3197delinsTC , LRG_300t1:c.3196_3197delinsTC	NP_114432.2:p.Ser1066=
XM_011525332.1:c.3256_3257delinsTC	XP_011523634.1:p.Ser1086=
XM_011525333.1:c.3256_3257delinsTC	XP_011523635.1:p.Ser1086=
XM_011525334.1:c.3256_3257delinsTC	XP_011523636.1:p.Ser1086=
XM_011525335.1:c.3196_3197delinsTC	XP_011523637.1:p.Ser1066=
XM_011525336.1:c.3136_3137delinsTC	XP_011523638.1:p.Ser1046=
XM_011525337.1:c.3055_3056delinsTC	XP_011523639.1:p.Ser1019=
XM_011525338.1:c.2773_2774delinsTC	XP_011523640.1:p.Ser925=
XM_011525332.3:c.3256_3257delinsTC	XP_011523634.1:p.Ser1086=
XM_011525333.3:c.3256_3257delinsTC	XP_011523635.1:p.Ser1086=
XM_011525334.2:c.3256_3257delinsTC	XP_011523636.1:p.Ser1086=
XM_011525335.3:c.3196_3197delinsTC	XP_011523637.1:p.Ser1066=
XM_011525336.2:c.3136_3137delinsTC	XP_011523638.1:p.Ser1046=
XM_011525337.2:c.3055_3056delinsTC	XP_011523639.1:p.Ser1019=
XM_011525338.2:c.2773_2774delinsTC	XP_011523640.1:p.Ser925=
XM_017025200.1:c.2713_2714delinsTC	XP_016880689.1:p.Ser905=
XM_017025201.1:c.2713_2714delinsTC	XP_016880690.1:p.Ser905=
XM_017025202.1:c.1342_1343delinsTC	XP_016880691.1:p.Ser448=
XM_017025203.1:c.1342_1343delinsTC	XP_016880692.1:p.Ser448=
NM_032043.3:c.3196_3197delinsTC MANE Select	NP_114432.2:p.Ser1066=