Canonical Allele Identifier: CA2643066351
Gene: RERE HGNC NCBI

Linked Data

gnomAD v4: 1-8360030-C-CA

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.8360031dup , CM000663.2:g.8360031dup GRCh38
NC_000001.10:g.8420091dup , CM000663.1:g.8420091dup GRCh37
NC_000001.9:g.8342678dup NCBI36
NG_047035.1:g.462661dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000465125.2:c.1734-45dup ENSP00000515651.1:n.1734-45dup
ENST00000400908.7:c.3396-45dup MANE Select ENSP00000383700.2:n.3396-45dup
ENST00000337907.7:c.3396-45dup ENSP00000338629.3:n.3396-45dup
ENST00000377464.5:c.2592-45dup ENSP00000366684.1:n.2592-45dup
ENST00000400907.6:c.1541-4432dup ENSP00000383699.2:n.1541-4432dup
ENST00000400908.6:c.3396-45dup ENSP00000383700.2:n.3396-45dup
ENST00000476556.5:c.1734-45dup ENSP00000422246.1:n.1734-45dup
ENST00000505225.1:c.307+1429dup ENSP00000423451.1:n.307+1429dup
NM_001042681.1:c.3396-45dup NP_001036146.1:n.3396-45dup
NM_001042682.1:c.1734-45dup NP_001036147.1:n.1734-45dup
NM_012102.3:c.3396-45dup NP_036234.3:n.3396-45dup
XM_005263464.1:c.3396-45dup XP_005263521.1:n.3396-45dup
XM_005263466.1:c.2592-45dup XP_005263523.1:n.2592-45dup
XM_006710653.1:c.3396-45dup XP_006710716.1:n.3396-45dup
XM_011541510.1:c.3270-45dup XP_011539812.1:n.3270-45dup
XM_011541511.1:c.3395+81dup XP_011539813.1:n.3395+81dup
XM_005263464.2:c.3396-45dup XP_005263521.1:n.3396-45dup
XM_011541510.2:c.3270-45dup XP_011539812.1:n.3270-45dup
XM_011541511.2:c.3395+81dup XP_011539813.1:n.3395+81dup
XM_017001358.1:c.3396-45dup XP_016856847.1:n.3396-45dup
XM_017001359.1:c.3396-45dup XP_016856848.1:n.3396-45dup
NM_001042681.2:c.3396-45dup MANE Select NP_001036146.1:n.3396-45dup
NM_001042682.2:c.1734-45dup NP_001036147.1:n.1734-45dup
NM_012102.4:c.3396-45dup NP_036234.3:n.3396-45dup