Canonical Allele Identifier: CA998365402

Gene: RERE

Linked Data

• dbSNP Id: rs757311329
• gnomAD v3: 1-8359830-C-CCGCTCT
• gnomAD v4: 1-8359830-C-CCGCTCT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8359836_8359841dup , CM000663.2:g.8359836_8359841dup	GRCh38
NC_000001.10:g.8419896_8419901dup , CM000663.1:g.8419896_8419901dup	GRCh37
NC_000001.9:g.8342483_8342488dup	NCBI36
NG_047035.1:g.462856_462861dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.1884_1889dup	ENSP00000515651.1:p.Arg630_Glu631insGluArg
ENST00000400908.7:c.3546_3551dup MANE Select	ENSP00000383700.2:p.Arg1184_Glu1185insGluArg
ENST00000337907.7:c.3546_3551dup	ENSP00000338629.3:p.Arg1184_Glu1185insGluArg
ENST00000377464.5:c.2742_2747dup	ENSP00000366684.1:p.Arg916_Glu917insGluArg
ENST00000400907.6:c.1541-4237_1541-4232dup	ENSP00000383699.2:n.1541-4237_1541-4232dup
ENST00000400908.6:c.3546_3551dup	ENSP00000383700.2:p.Arg1184_Glu1185insGluArg
ENST00000476556.5:c.1884_1889dup	ENSP00000422246.1:p.Arg630_Glu631insGluArg
ENST00000505225.1:c.307+1624_307+1629dup	ENSP00000423451.1:n.307+1624_307+1629dup
NM_001042681.1:c.3546_3551dup	NP_001036146.1:p.Arg1184_Glu1185insGluArg
NM_001042682.1:c.1884_1889dup	NP_001036147.1:p.Arg630_Glu631insGluArg
NM_012102.3:c.3546_3551dup	NP_036234.3:p.Arg1184_Glu1185insGluArg
XM_005263464.1:c.3546_3551dup	XP_005263521.1:p.Arg1184_Glu1185insGluArg
XM_005263466.1:c.2742_2747dup	XP_005263523.1:p.Arg916_Glu917insGluArg
XM_006710653.1:c.3546_3551dup	XP_006710716.1:p.Arg1184_Glu1185insGluArg
XM_011541510.1:c.3420_3425dup	XP_011539812.1:p.Arg1142_Glu1143insGluArg
XM_011541511.1:c.3395+276_3395+281dup	XP_011539813.1:n.3395+276_3395+281dup
XM_005263464.2:c.3546_3551dup	XP_005263521.1:p.Arg1184_Glu1185insGluArg
XM_011541510.2:c.3420_3425dup	XP_011539812.1:p.Arg1142_Glu1143insGluArg
XM_011541511.2:c.3395+276_3395+281dup	XP_011539813.1:n.3395+276_3395+281dup
XM_017001358.1:c.3546_3551dup	XP_016856847.1:p.Arg1184_Glu1185insGluArg
XM_017001359.1:c.3546_3551dup	XP_016856848.1:p.Arg1184_Glu1185insGluArg
NM_001042681.2:c.3546_3551dup MANE Select	NP_001036146.1:p.Arg1184_Glu1185insGluArg
NM_001042682.2:c.1884_1889dup	NP_001036147.1:p.Arg630_Glu631insGluArg
NM_012102.4:c.3546_3551dup	NP_036234.3:p.Arg1184_Glu1185insGluArg