Canonical Allele Identifier: CA2742376347

Gene: RERE

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8359782_8359793del , CM000663.2:g.8359782_8359793del	GRCh38
NC_000001.10:g.8419842_8419853del , CM000663.1:g.8419842_8419853del	GRCh37
NC_000001.9:g.8342429_8342440del	NCBI36
NG_047035.1:g.462902_462913del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.1930_1941del	ENSP00000515651.1:p.Arg644_Glu647del
ENST00000400908.7:c.3592_3603del MANE Select	ENSP00000383700.2:p.Arg1198_Glu1201del
ENST00000337907.7:c.3592_3603del	ENSP00000338629.3:p.Arg1198_Glu1201del
ENST00000377464.5:c.2788_2799del	ENSP00000366684.1:p.Arg930_Glu933del
ENST00000400907.6:c.1541-4191_1541-4180del	ENSP00000383699.2:n.1541-4191_1541-4180del
ENST00000400908.6:c.3592_3603del	ENSP00000383700.2:p.Arg1198_Glu1201del
ENST00000476556.5:c.1930_1941del	ENSP00000422246.1:p.Arg644_Glu647del
ENST00000505225.1:c.307+1670_307+1681del	ENSP00000423451.1:n.307+1670_307+1681del
NM_001042681.1:c.3592_3603del	NP_001036146.1:p.Arg1198_Glu1201del
NM_001042682.1:c.1930_1941del	NP_001036147.1:p.Arg644_Glu647del
NM_012102.3:c.3592_3603del	NP_036234.3:p.Arg1198_Glu1201del
XM_005263464.1:c.3592_3603del	XP_005263521.1:p.Arg1198_Glu1201del
XM_005263466.1:c.2788_2799del	XP_005263523.1:p.Arg930_Glu933del
XM_006710653.1:c.3592_3603del	XP_006710716.1:p.Arg1198_Glu1201del
XM_011541510.1:c.3466_3477del	XP_011539812.1:p.Arg1156_Glu1159del
XM_011541511.1:c.3395+322_3395+333del	XP_011539813.1:n.3395+322_3395+333del
XM_005263464.2:c.3592_3603del	XP_005263521.1:p.Arg1198_Glu1201del
XM_011541510.2:c.3466_3477del	XP_011539812.1:p.Arg1156_Glu1159del
XM_011541511.2:c.3395+322_3395+333del	XP_011539813.1:n.3395+322_3395+333del
XM_017001358.1:c.3592_3603del	XP_016856847.1:p.Arg1198_Glu1201del
XM_017001359.1:c.3592_3603del	XP_016856848.1:p.Arg1198_Glu1201del
NM_001042681.2:c.3592_3603del MANE Select	NP_001036146.1:p.Arg1198_Glu1201del
NM_001042682.2:c.1930_1941del	NP_001036147.1:p.Arg644_Glu647del
NM_012102.4:c.3592_3603del	NP_036234.3:p.Arg1198_Glu1201del