Canonical Allele Identifier: CA2840117710

Gene: RERE

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8358291dup , CM000663.2:g.8358291dup	GRCh38
NC_000001.10:g.8418351dup , CM000663.1:g.8418351dup	GRCh37
NC_000001.9:g.8340938dup	NCBI36
NG_047035.1:g.464403dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.2584dup	ENSP00000515651.1:p.Arg862ProfsTer?
ENST00000400908.7:c.4246dup MANE Select	ENSP00000383700.2:p.Arg1416ProfsTer?
ENST00000337907.7:c.4246dup	ENSP00000338629.3:p.Arg1416ProfsTer?
ENST00000377464.5:c.3442dup	ENSP00000366684.1:p.Arg1148ProfsTer?
ENST00000400907.6:c.1541-2690dup	ENSP00000383699.2:n.1541-2690dup
ENST00000400908.6:c.4246dup	ENSP00000383700.2:p.Arg1416ProfsTer?
ENST00000476556.5:c.2584dup	ENSP00000422246.1:p.Arg862ProfsTer?
ENST00000505225.1:c.308-2043dup	ENSP00000423451.1:n.308-2043dup
NM_001042681.1:c.4246dup	NP_001036146.1:p.Arg1416ProfsTer?
NM_001042682.1:c.2584dup	NP_001036147.1:p.Arg862ProfsTer?
NM_012102.3:c.4246dup	NP_036234.3:p.Arg1416ProfsTer?
XM_005263464.1:c.4246dup	XP_005263521.1:p.Arg1416ProfsTer?
XM_005263466.1:c.3442dup	XP_005263523.1:p.Arg1148ProfsTer?
XM_006710653.1:c.4246dup	XP_006710716.1:p.Arg1416ProfsTer?
XM_011541510.1:c.4120dup	XP_011539812.1:p.Arg1374ProfsTer?
XM_005263464.2:c.4246dup	XP_005263521.1:p.Arg1416ProfsTer?
XM_011541510.2:c.4120dup	XP_011539812.1:p.Arg1374ProfsTer?
XM_017001358.1:c.4246dup	XP_016856847.1:p.Arg1416ProfsTer?
XM_017001359.1:c.4246dup	XP_016856848.1:p.Arg1416ProfsTer?
NM_001042681.2:c.4246dup MANE Select	NP_001036146.1:p.Arg1416ProfsTer?
NM_001042682.2:c.2584dup	NP_001036147.1:p.Arg862ProfsTer?
NM_012102.4:c.4246dup	NP_036234.3:p.Arg1416ProfsTer?