Canonical Allele Identifier: CA521020080
Gene: RERE HGNC NCBI

Linked Data

dbSNP Id: rs1450144097

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.8360375_8360377del , CM000663.2:g.8360375_8360377del GRCh38
NC_000001.10:g.8420435_8420437del , CM000663.1:g.8420435_8420437del GRCh37
NC_000001.9:g.8343022_8343024del NCBI36
NG_047035.1:g.462320_462322del

Transcript Alleles

HGVS Amino-acid Change
ENST00000465125.2:c.1473_1475del ENSP00000515651.1:p.Pro492del
ENST00000400908.7:c.3135_3137del MANE Select ENSP00000383700.2:p.Pro1046del
ENST00000337907.7:c.3135_3137del ENSP00000338629.3:p.Pro1046del
ENST00000377464.5:c.2331_2333del ENSP00000366684.1:p.Pro778del
ENST00000400907.6:c.1540+4374_1540+4376del ENSP00000383699.2:n.1540+4374_1540+4376del
ENST00000400908.6:c.3135_3137del ENSP00000383700.2:p.Pro1046del
ENST00000476556.5:c.1473_1475del ENSP00000422246.1:p.Pro492del
ENST00000505225.1:c.307+1088_307+1090del ENSP00000423451.1:n.307+1088_307+1090del
NM_001042681.1:c.3135_3137del NP_001036146.1:p.Pro1046del
NM_001042682.1:c.1473_1475del NP_001036147.1:p.Pro492del
NM_012102.3:c.3135_3137del NP_036234.3:p.Pro1046del
XM_005263464.1:c.3135_3137del XP_005263521.1:p.Pro1046del
XM_005263466.1:c.2331_2333del XP_005263523.1:p.Pro778del
XM_006710653.1:c.3135_3137del XP_006710716.1:p.Pro1046del
XM_011541510.1:c.3009_3011del XP_011539812.1:p.Pro1004del
XM_011541511.1:c.3135_3137del XP_011539813.1:p.Pro1046del
XM_005263464.2:c.3135_3137del XP_005263521.1:p.Pro1046del
XM_011541510.2:c.3009_3011del XP_011539812.1:p.Pro1004del
XM_011541511.2:c.3135_3137del XP_011539813.1:p.Pro1046del
XM_017001358.1:c.3135_3137del XP_016856847.1:p.Pro1046del
XM_017001359.1:c.3135_3137del XP_016856848.1:p.Pro1046del
NM_001042681.2:c.3135_3137del MANE Select NP_001036146.1:p.Pro1046del
NM_001042682.2:c.1473_1475del NP_001036147.1:p.Pro492del
NM_012102.4:c.3135_3137del NP_036234.3:p.Pro1046del