Canonical Allele Identifier: CA571085
Gene: RERE HGNC NCBI

Linked Data

ClinVar Variation Id: 2147778
ClinVar RCV Id: RCV003061073
dbSNP Id: rs780958536

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.8359794_8359811dup , CM000663.2:g.8359794_8359811dup GRCh38
NC_000001.10:g.8419854_8419871dup , CM000663.1:g.8419854_8419871dup GRCh37
NC_000001.9:g.8342441_8342458dup NCBI36
NG_047035.1:g.462892_462909dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000465125.2:c.1920_1937dup ENSP00000515651.1:p.Arg646_Glu647insGluArgGluArgGluArg
ENST00000400908.7:c.3582_3599dup MANE Select ENSP00000383700.2:p.Arg1200_Glu1201insGluArgGluArgGluArg
ENST00000337907.7:c.3582_3599dup ENSP00000338629.3:p.Arg1200_Glu1201insGluArgGluArgGluArg
ENST00000377464.5:c.2778_2795dup ENSP00000366684.1:p.Arg932_Glu933insGluArgGluArgGluArg
ENST00000400907.6:c.1541-4201_1541-4184dup ENSP00000383699.2:n.1541-4201_1541-4184dup
ENST00000400908.6:c.3582_3599dup ENSP00000383700.2:p.Arg1200_Glu1201insGluArgGluArgGluArg
ENST00000476556.5:c.1920_1937dup ENSP00000422246.1:p.Arg646_Glu647insGluArgGluArgGluArg
ENST00000505225.1:c.307+1660_307+1677dup ENSP00000423451.1:n.307+1660_307+1677dup
NM_001042681.1:c.3582_3599dup NP_001036146.1:p.Arg1200_Glu1201insGluArgGluArgGluArg
NM_001042682.1:c.1920_1937dup NP_001036147.1:p.Arg646_Glu647insGluArgGluArgGluArg
NM_012102.3:c.3582_3599dup NP_036234.3:p.Arg1200_Glu1201insGluArgGluArgGluArg
XM_005263464.1:c.3582_3599dup XP_005263521.1:p.Arg1200_Glu1201insGluArgGluArgGluArg
XM_005263466.1:c.2778_2795dup XP_005263523.1:p.Arg932_Glu933insGluArgGluArgGluArg
XM_006710653.1:c.3582_3599dup XP_006710716.1:p.Arg1200_Glu1201insGluArgGluArgGluArg
XM_011541510.1:c.3456_3473dup XP_011539812.1:p.Arg1158_Glu1159insGluArgGluArgGluArg
XM_011541511.1:c.3395+312_3395+329dup XP_011539813.1:n.3395+312_3395+329dup
XM_005263464.2:c.3582_3599dup XP_005263521.1:p.Arg1200_Glu1201insGluArgGluArgGluArg
XM_011541510.2:c.3456_3473dup XP_011539812.1:p.Arg1158_Glu1159insGluArgGluArgGluArg
XM_011541511.2:c.3395+312_3395+329dup XP_011539813.1:n.3395+312_3395+329dup
XM_017001358.1:c.3582_3599dup XP_016856847.1:p.Arg1200_Glu1201insGluArgGluArgGluArg
XM_017001359.1:c.3582_3599dup XP_016856848.1:p.Arg1200_Glu1201insGluArgGluArgGluArg
NM_001042681.2:c.3582_3599dup MANE Select NP_001036146.1:p.Arg1200_Glu1201insGluArgGluArgGluArg
NM_001042682.2:c.1920_1937dup NP_001036147.1:p.Arg646_Glu647insGluArgGluArgGluArg
NM_012102.4:c.3582_3599dup NP_036234.3:p.Arg1200_Glu1201insGluArgGluArgGluArg