Canonical Allele Identifier: CA1152321039
Gene: RERE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.8359788_8359794delinsCCGCTCT , CM000663.2:g.8359788_8359794delinsCCGCTCT GRCh38
NC_000001.10:g.8419848_8419854delinsCCGCTCT , CM000663.1:g.8419848_8419854delinsCCGCTCT GRCh37
NC_000001.9:g.8342435_8342441delinsCCGCTCT NCBI36
NG_047035.1:g.462898_462904delinsAGAGCGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000465125.2:c.1926_1932delinsAGAGCGG ENSP00000515651.1:p.Arg642=
ENST00000400908.7:c.3588_3594delinsAGAGCGG MANE Select ENSP00000383700.2:p.Arg1196=
ENST00000337907.7:c.3588_3594delinsAGAGCGG ENSP00000338629.3:p.Arg1196=
ENST00000377464.5:c.2784_2790delinsAGAGCGG ENSP00000366684.1:p.Arg928=
ENST00000400907.6:c.1541-4195_1541-4189delinsAGAGCGG ENSP00000383699.2:n.1541-4195_1541-4189delinsAGAGCGG
ENST00000400908.6:c.3588_3594delinsAGAGCGG ENSP00000383700.2:p.Arg1196=
ENST00000476556.5:c.1926_1932delinsAGAGCGG ENSP00000422246.1:p.Arg642=
ENST00000505225.1:c.307+1666_307+1672delinsAGAGCGG ENSP00000423451.1:n.307+1666_307+1672delinsAGAGCGG
NM_001042681.1:c.3588_3594delinsAGAGCGG NP_001036146.1:p.Arg1196=
NM_001042682.1:c.1926_1932delinsAGAGCGG NP_001036147.1:p.Arg642=
NM_012102.3:c.3588_3594delinsAGAGCGG NP_036234.3:p.Arg1196=
XM_005263464.1:c.3588_3594delinsAGAGCGG XP_005263521.1:p.Arg1196=
XM_005263466.1:c.2784_2790delinsAGAGCGG XP_005263523.1:p.Arg928=
XM_006710653.1:c.3588_3594delinsAGAGCGG XP_006710716.1:p.Arg1196=
XM_011541510.1:c.3462_3468delinsAGAGCGG XP_011539812.1:p.Arg1154=
XM_011541511.1:c.3395+318_3395+324delinsAGAGCGG XP_011539813.1:n.3395+318_3395+324delinsAGAGCGG
XM_005263464.2:c.3588_3594delinsAGAGCGG XP_005263521.1:p.Arg1196=
XM_011541510.2:c.3462_3468delinsAGAGCGG XP_011539812.1:p.Arg1154=
XM_011541511.2:c.3395+318_3395+324delinsAGAGCGG XP_011539813.1:n.3395+318_3395+324delinsAGAGCGG
XM_017001358.1:c.3588_3594delinsAGAGCGG XP_016856847.1:p.Arg1196=
XM_017001359.1:c.3588_3594delinsAGAGCGG XP_016856848.1:p.Arg1196=
NM_001042681.2:c.3588_3594delinsAGAGCGG MANE Select NP_001036146.1:p.Arg1196=
NM_001042682.2:c.1926_1932delinsAGAGCGG NP_001036147.1:p.Arg642=
NM_012102.4:c.3588_3594delinsAGAGCGG NP_036234.3:p.Arg1196=