Canonical Allele Identifier: CA1152321321
Gene: RERE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.8360369_8360372delinsGGGA , CM000663.2:g.8360369_8360372delinsGGGA GRCh38
NC_000001.10:g.8420429_8420432delinsGGGA , CM000663.1:g.8420429_8420432delinsGGGA GRCh37
NC_000001.9:g.8343016_8343019delinsGGGA NCBI36
NG_047035.1:g.462320_462323delinsTCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000465125.2:c.1473_1476delinsTCCC ENSP00000515651.1:p.Pro491=
ENST00000400908.7:c.3135_3138delinsTCCC MANE Select ENSP00000383700.2:p.Pro1045=
ENST00000337907.7:c.3135_3138delinsTCCC ENSP00000338629.3:p.Pro1045=
ENST00000377464.5:c.2331_2334delinsTCCC ENSP00000366684.1:p.Pro777=
ENST00000400907.6:c.1540+4374_1540+4377delinsTCCC ENSP00000383699.2:n.1540+4374_1540+4377delinsTCCC
ENST00000400908.6:c.3135_3138delinsTCCC ENSP00000383700.2:p.Pro1045=
ENST00000476556.5:c.1473_1476delinsTCCC ENSP00000422246.1:p.Pro491=
ENST00000505225.1:c.307+1088_307+1091delinsTCCC ENSP00000423451.1:n.307+1088_307+1091delinsTCCC
NM_001042681.1:c.3135_3138delinsTCCC NP_001036146.1:p.Pro1045=
NM_001042682.1:c.1473_1476delinsTCCC NP_001036147.1:p.Pro491=
NM_012102.3:c.3135_3138delinsTCCC NP_036234.3:p.Pro1045=
XM_005263464.1:c.3135_3138delinsTCCC XP_005263521.1:p.Pro1045=
XM_005263466.1:c.2331_2334delinsTCCC XP_005263523.1:p.Pro777=
XM_006710653.1:c.3135_3138delinsTCCC XP_006710716.1:p.Pro1045=
XM_011541510.1:c.3009_3012delinsTCCC XP_011539812.1:p.Pro1003=
XM_011541511.1:c.3135_3138delinsTCCC XP_011539813.1:p.Pro1045=
XM_005263464.2:c.3135_3138delinsTCCC XP_005263521.1:p.Pro1045=
XM_011541510.2:c.3009_3012delinsTCCC XP_011539812.1:p.Pro1003=
XM_011541511.2:c.3135_3138delinsTCCC XP_011539813.1:p.Pro1045=
XM_017001358.1:c.3135_3138delinsTCCC XP_016856847.1:p.Pro1045=
XM_017001359.1:c.3135_3138delinsTCCC XP_016856848.1:p.Pro1045=
NM_001042681.2:c.3135_3138delinsTCCC MANE Select NP_001036146.1:p.Pro1045=
NM_001042682.2:c.1473_1476delinsTCCC NP_001036147.1:p.Pro491=
NM_012102.4:c.3135_3138delinsTCCC NP_036234.3:p.Pro1045=