Canonical Allele Identifier: CA2574199157

Gene: RERE

Linked Data

• gnomAD v4: 1-8359826-T-TCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8359828_8359830dup , CM000663.2:g.8359828_8359830dup	GRCh38
NC_000001.10:g.8419888_8419890dup , CM000663.1:g.8419888_8419890dup	GRCh37
NC_000001.9:g.8342475_8342477dup	NCBI36
NG_047035.1:g.462863_462865dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.1891_1893dup	ENSP00000515651.1:p.Glu631_Lys632insGlu
ENST00000400908.7:c.3553_3555dup MANE Select	ENSP00000383700.2:p.Glu1185_Lys1186insGlu
ENST00000337907.7:c.3553_3555dup	ENSP00000338629.3:p.Glu1185_Lys1186insGlu
ENST00000377464.5:c.2749_2751dup	ENSP00000366684.1:p.Glu917_Lys918insGlu
ENST00000400907.6:c.1541-4230_1541-4228dup	ENSP00000383699.2:n.1541-4230_1541-4228dup
ENST00000400908.6:c.3553_3555dup	ENSP00000383700.2:p.Glu1185_Lys1186insGlu
ENST00000476556.5:c.1891_1893dup	ENSP00000422246.1:p.Glu631_Lys632insGlu
ENST00000505225.1:c.307+1631_307+1633dup	ENSP00000423451.1:n.307+1631_307+1633dup
NM_001042681.1:c.3553_3555dup	NP_001036146.1:p.Glu1185_Lys1186insGlu
NM_001042682.1:c.1891_1893dup	NP_001036147.1:p.Glu631_Lys632insGlu
NM_012102.3:c.3553_3555dup	NP_036234.3:p.Glu1185_Lys1186insGlu
XM_005263464.1:c.3553_3555dup	XP_005263521.1:p.Glu1185_Lys1186insGlu
XM_005263466.1:c.2749_2751dup	XP_005263523.1:p.Glu917_Lys918insGlu
XM_006710653.1:c.3553_3555dup	XP_006710716.1:p.Glu1185_Lys1186insGlu
XM_011541510.1:c.3427_3429dup	XP_011539812.1:p.Glu1143_Lys1144insGlu
XM_011541511.1:c.3395+283_3395+285dup	XP_011539813.1:n.3395+283_3395+285dup
XM_005263464.2:c.3553_3555dup	XP_005263521.1:p.Glu1185_Lys1186insGlu
XM_011541510.2:c.3427_3429dup	XP_011539812.1:p.Glu1143_Lys1144insGlu
XM_011541511.2:c.3395+283_3395+285dup	XP_011539813.1:n.3395+283_3395+285dup
XM_017001358.1:c.3553_3555dup	XP_016856847.1:p.Glu1185_Lys1186insGlu
XM_017001359.1:c.3553_3555dup	XP_016856848.1:p.Glu1185_Lys1186insGlu
NM_001042681.2:c.3553_3555dup MANE Select	NP_001036146.1:p.Glu1185_Lys1186insGlu
NM_001042682.2:c.1891_1893dup	NP_001036147.1:p.Glu631_Lys632insGlu
NM_012102.4:c.3553_3555dup	NP_036234.3:p.Glu1185_Lys1186insGlu