Canonical Allele Identifier: CA571104
Gene: RERE HGNC NCBI

Linked Data

ClinVar Variation Id: 715993
dbSNP Id: rs147985313

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.8359825_8359830del , CM000663.2:g.8359825_8359830del GRCh38
NC_000001.10:g.8419885_8419890del , CM000663.1:g.8419885_8419890del GRCh37
NC_000001.9:g.8342472_8342477del NCBI36
NG_047035.1:g.462878_462883del

Transcript Alleles

HGVS Amino-acid Change
ENST00000465125.2:c.1906_1911del ENSP00000515651.1:p.Lys636_Glu637del
ENST00000400908.7:c.3568_3573del MANE Select ENSP00000383700.2:p.Lys1190_Glu1191del
ENST00000337907.7:c.3568_3573del ENSP00000338629.3:p.Lys1190_Glu1191del
ENST00000377464.5:c.2764_2769del ENSP00000366684.1:p.Lys922_Glu923del
ENST00000400907.6:c.1541-4215_1541-4210del ENSP00000383699.2:n.1541-4215_1541-4210del
ENST00000400908.6:c.3568_3573del ENSP00000383700.2:p.Lys1190_Glu1191del
ENST00000476556.5:c.1906_1911del ENSP00000422246.1:p.Lys636_Glu637del
ENST00000505225.1:c.307+1646_307+1651del ENSP00000423451.1:n.307+1646_307+1651del
NM_001042681.1:c.3568_3573del NP_001036146.1:p.Lys1190_Glu1191del
NM_001042682.1:c.1906_1911del NP_001036147.1:p.Lys636_Glu637del
NM_012102.3:c.3568_3573del NP_036234.3:p.Lys1190_Glu1191del
XM_005263464.1:c.3568_3573del XP_005263521.1:p.Lys1190_Glu1191del
XM_005263466.1:c.2764_2769del XP_005263523.1:p.Lys922_Glu923del
XM_006710653.1:c.3568_3573del XP_006710716.1:p.Lys1190_Glu1191del
XM_011541510.1:c.3442_3447del XP_011539812.1:p.Lys1148_Glu1149del
XM_011541511.1:c.3395+298_3395+303del XP_011539813.1:n.3395+298_3395+303del
XM_005263464.2:c.3568_3573del XP_005263521.1:p.Lys1190_Glu1191del
XM_011541510.2:c.3442_3447del XP_011539812.1:p.Lys1148_Glu1149del
XM_011541511.2:c.3395+298_3395+303del XP_011539813.1:n.3395+298_3395+303del
XM_017001358.1:c.3568_3573del XP_016856847.1:p.Lys1190_Glu1191del
XM_017001359.1:c.3568_3573del XP_016856848.1:p.Lys1190_Glu1191del
NM_001042681.2:c.3568_3573del MANE Select NP_001036146.1:p.Lys1190_Glu1191del
NM_001042682.2:c.1906_1911del NP_001036147.1:p.Lys636_Glu637del
NM_012102.4:c.3568_3573del NP_036234.3:p.Lys1190_Glu1191del