Canonical Allele Identifier: CA2643066258

Gene: RERE

Linked Data

• gnomAD v4: 1-8359794-T-TCGCTCCCGCTCCCGCTCC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8359795_8359812dup , CM000663.2:g.8359795_8359812dup	GRCh38
NC_000001.10:g.8419855_8419872dup , CM000663.1:g.8419855_8419872dup	GRCh37
NC_000001.9:g.8342442_8342459dup	NCBI36
NG_047035.1:g.462880_462897dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.1908_1925dup	ENSP00000515651.1:p.Arg642_Glu643insGluArgGluArgGluArg
ENST00000400908.7:c.3570_3587dup MANE Select	ENSP00000383700.2:p.Arg1196_Glu1197insGluArgGluArgGluArg
ENST00000337907.7:c.3570_3587dup	ENSP00000338629.3:p.Arg1196_Glu1197insGluArgGluArgGluArg
ENST00000377464.5:c.2766_2783dup	ENSP00000366684.1:p.Arg928_Glu929insGluArgGluArgGluArg
ENST00000400907.6:c.1541-4213_1541-4196dup	ENSP00000383699.2:n.1541-4213_1541-4196dup
ENST00000400908.6:c.3570_3587dup	ENSP00000383700.2:p.Arg1196_Glu1197insGluArgGluArgGluArg
ENST00000476556.5:c.1908_1925dup	ENSP00000422246.1:p.Arg642_Glu643insGluArgGluArgGluArg
ENST00000505225.1:c.307+1648_307+1665dup	ENSP00000423451.1:n.307+1648_307+1665dup
NM_001042681.1:c.3570_3587dup	NP_001036146.1:p.Arg1196_Glu1197insGluArgGluArgGluArg
NM_001042682.1:c.1908_1925dup	NP_001036147.1:p.Arg642_Glu643insGluArgGluArgGluArg
NM_012102.3:c.3570_3587dup	NP_036234.3:p.Arg1196_Glu1197insGluArgGluArgGluArg
XM_005263464.1:c.3570_3587dup	XP_005263521.1:p.Arg1196_Glu1197insGluArgGluArgGluArg
XM_005263466.1:c.2766_2783dup	XP_005263523.1:p.Arg928_Glu929insGluArgGluArgGluArg
XM_006710653.1:c.3570_3587dup	XP_006710716.1:p.Arg1196_Glu1197insGluArgGluArgGluArg
XM_011541510.1:c.3444_3461dup	XP_011539812.1:p.Arg1154_Glu1155insGluArgGluArgGluArg
XM_011541511.1:c.3395+300_3395+317dup	XP_011539813.1:n.3395+300_3395+317dup
XM_005263464.2:c.3570_3587dup	XP_005263521.1:p.Arg1196_Glu1197insGluArgGluArgGluArg
XM_011541510.2:c.3444_3461dup	XP_011539812.1:p.Arg1154_Glu1155insGluArgGluArgGluArg
XM_011541511.2:c.3395+300_3395+317dup	XP_011539813.1:n.3395+300_3395+317dup
XM_017001358.1:c.3570_3587dup	XP_016856847.1:p.Arg1196_Glu1197insGluArgGluArgGluArg
XM_017001359.1:c.3570_3587dup	XP_016856848.1:p.Arg1196_Glu1197insGluArgGluArgGluArg
NM_001042681.2:c.3570_3587dup MANE Select	NP_001036146.1:p.Arg1196_Glu1197insGluArgGluArgGluArg
NM_001042682.2:c.1908_1925dup	NP_001036147.1:p.Arg642_Glu643insGluArgGluArgGluArg
NM_012102.4:c.3570_3587dup	NP_036234.3:p.Arg1196_Glu1197insGluArgGluArgGluArg