Canonical Allele Identifier: CA1148262907
Gene: RERE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.8360258_8360264delinsCCCCCCC , CM000663.2:g.8360258_8360264delinsCCCCCCC GRCh38
NC_000001.10:g.8420318_8420324delinsCCCCCCC , CM000663.1:g.8420318_8420324delinsCCCCCCC GRCh37
NC_000001.9:g.8342905_8342911delinsCCCCCCC NCBI36
NG_047035.1:g.462428_462434delinsGGGGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000465125.2:c.1581_1587delinsGGGGGGG ENSP00000515651.1:p.Ala527=
ENST00000400908.7:c.3243_3249delinsGGGGGGG MANE Select ENSP00000383700.2:p.Ala1081=
ENST00000337907.7:c.3243_3249delinsGGGGGGG ENSP00000338629.3:p.Ala1081=
ENST00000377464.5:c.2439_2445delinsGGGGGGG ENSP00000366684.1:p.Ala813=
ENST00000400907.6:c.1540+4482_1540+4488delinsGGGGGGG ENSP00000383699.2:n.1540+4482_1540+4488delinsGGGGGGG
ENST00000400908.6:c.3243_3249delinsGGGGGGG ENSP00000383700.2:p.Ala1081=
ENST00000476556.5:c.1581_1587delinsGGGGGGG ENSP00000422246.1:p.Ala527=
ENST00000505225.1:c.307+1196_307+1202delinsGGGGGGG ENSP00000423451.1:n.307+1196_307+1202delinsGGGGGGG
NM_001042681.1:c.3243_3249delinsGGGGGGG NP_001036146.1:p.Ala1081=
NM_001042682.1:c.1581_1587delinsGGGGGGG NP_001036147.1:p.Ala527=
NM_012102.3:c.3243_3249delinsGGGGGGG NP_036234.3:p.Ala1081=
XM_005263464.1:c.3243_3249delinsGGGGGGG XP_005263521.1:p.Ala1081=
XM_005263466.1:c.2439_2445delinsGGGGGGG XP_005263523.1:p.Ala813=
XM_006710653.1:c.3243_3249delinsGGGGGGG XP_006710716.1:p.Ala1081=
XM_011541510.1:c.3117_3123delinsGGGGGGG XP_011539812.1:p.Ala1039=
XM_011541511.1:c.3243_3249delinsGGGGGGG XP_011539813.1:p.Ala1081=
XM_005263464.2:c.3243_3249delinsGGGGGGG XP_005263521.1:p.Ala1081=
XM_011541510.2:c.3117_3123delinsGGGGGGG XP_011539812.1:p.Ala1039=
XM_011541511.2:c.3243_3249delinsGGGGGGG XP_011539813.1:p.Ala1081=
XM_017001358.1:c.3243_3249delinsGGGGGGG XP_016856847.1:p.Ala1081=
XM_017001359.1:c.3243_3249delinsGGGGGGG XP_016856848.1:p.Ala1081=
NM_001042681.2:c.3243_3249delinsGGGGGGG MANE Select NP_001036146.1:p.Ala1081=
NM_001042682.2:c.1581_1587delinsGGGGGGG NP_001036147.1:p.Ala527=
NM_012102.4:c.3243_3249delinsGGGGGGG NP_036234.3:p.Ala1081=