Canonical Allele Identifier: CA2269130951

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683730_61683731delinsAC , CM000679.2:g.61683730_61683731delinsAC	GRCh38
NC_000017.10:g.59761091_59761092delinsAC , CM000679.1:g.59761091_59761092delinsAC	GRCh37
NC_000017.9:g.57115873_57115874delinsAC	NCBI36
NG_007409.2:g.184829_184830delinsGT , LRG_300:g.184829_184830delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2055_2056delinsGT
ENST00000682453.1:c.3315_3316delinsGT	ENSP00000506943.1:p.Leu1105=
ENST00000682477.1:c.*2741_*2742delinsGT	ENSP00000507075.1:n.*2741_*2742delinsGT
ENST00000682589.1:n.9192_9193delinsGT
ENST00000682755.1:c.3093_3094delinsGT	ENSP00000507660.1:p.Leu1031=
ENST00000682989.1:c.*406_*407delinsGT	ENSP00000507786.1:n.*406_*407delinsGT
ENST00000683039.1:c.3315_3316delinsGT	ENSP00000508303.1:p.Leu1105=
ENST00000683235.1:c.*730_*731delinsGT	ENSP00000507646.1:n.*730_*731delinsGT
ENST00000683535.1:n.1445_1446delinsGT
ENST00000684584.1:c.2478_2479delinsGT	ENSP00000508044.1:p.Leu826=
ENST00000684626.1:n.1561_1562delinsGT
ENST00000684769.1:c.1505_1506delinsGT	ENSP00000507691.1:n.1505_1506delinsGT
ENST00000259008.7:c.3315_3316delinsGT MANE Select	ENSP00000259008.2:p.Leu1105=
ENST00000259008.6:c.3315_3316delinsGT	ENSP00000259008.2:p.Leu1105=
NM_032043.2:c.3315_3316delinsGT , LRG_300t1:c.3315_3316delinsGT	NP_114432.2:p.Leu1105=
XM_011525332.1:c.3375_3376delinsGT	XP_011523634.1:p.Leu1125=
XM_011525333.1:c.3375_3376delinsGT	XP_011523635.1:p.Leu1125=
XM_011525334.1:c.3375_3376delinsGT	XP_011523636.1:p.Leu1125=
XM_011525335.1:c.3315_3316delinsGT	XP_011523637.1:p.Leu1105=
XM_011525336.1:c.3255_3256delinsGT	XP_011523638.1:p.Leu1085=
XM_011525337.1:c.3174_3175delinsGT	XP_011523639.1:p.Leu1058=
XM_011525338.1:c.2892_2893delinsGT	XP_011523640.1:p.Leu964=
XM_011525332.3:c.3375_3376delinsGT	XP_011523634.1:p.Leu1125=
XM_011525333.3:c.3375_3376delinsGT	XP_011523635.1:p.Leu1125=
XM_011525334.2:c.3375_3376delinsGT	XP_011523636.1:p.Leu1125=
XM_011525335.3:c.3315_3316delinsGT	XP_011523637.1:p.Leu1105=
XM_011525336.2:c.3255_3256delinsGT	XP_011523638.1:p.Leu1085=
XM_011525337.2:c.3174_3175delinsGT	XP_011523639.1:p.Leu1058=
XM_011525338.2:c.2892_2893delinsGT	XP_011523640.1:p.Leu964=
XM_017025200.1:c.2832_2833delinsGT	XP_016880689.1:p.Leu944=
XM_017025201.1:c.2832_2833delinsGT	XP_016880690.1:p.Leu944=
XM_017025202.1:c.1461_1462delinsGT	XP_016880691.1:p.Leu487=
XM_017025203.1:c.1461_1462delinsGT	XP_016880692.1:p.Leu487=
NM_032043.3:c.3315_3316delinsGT MANE Select	NP_114432.2:p.Leu1105=