Canonical Allele Identifier: CA2643072752
Gene: RERE HGNC NCBI

Linked Data

gnomAD v4: 1-8355328-A-AG

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.8355329dup , CM000663.2:g.8355329dup GRCh38
NC_000001.10:g.8415389dup , CM000663.1:g.8415389dup GRCh37
NC_000001.9:g.8337976dup NCBI36
NG_047035.1:g.467363dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000465125.2:c.3005+90dup ENSP00000515651.1:n.3005+90dup
ENST00000400908.7:c.4667+90dup MANE Select ENSP00000383700.2:n.4667+90dup
ENST00000337907.7:c.4667+90dup ENSP00000338629.3:n.4667+90dup
ENST00000377464.5:c.3863+90dup ENSP00000366684.1:n.3863+90dup
ENST00000400907.6:c.1721+90dup ENSP00000383699.2:n.1721+90dup
ENST00000400908.6:c.4667+90dup ENSP00000383700.2:n.4667+90dup
ENST00000476556.5:c.3005+90dup ENSP00000422246.1:n.3005+90dup
NM_001042681.1:c.4667+90dup NP_001036146.1:n.4667+90dup
NM_001042682.1:c.3005+90dup NP_001036147.1:n.3005+90dup
NM_012102.3:c.4667+90dup NP_036234.3:n.4667+90dup
XM_005263464.1:c.4667+90dup XP_005263521.1:n.4667+90dup
XM_005263466.1:c.3863+90dup XP_005263523.1:n.3863+90dup
XM_006710653.1:c.4667+90dup XP_006710716.1:n.4667+90dup
XM_011541510.1:c.4541+90dup XP_011539812.1:n.4541+90dup
XM_005263464.2:c.4667+90dup XP_005263521.1:n.4667+90dup
XM_011541510.2:c.4541+90dup XP_011539812.1:n.4541+90dup
XM_017001358.1:c.4667+90dup XP_016856847.1:n.4667+90dup
XM_017001359.1:c.4667+90dup XP_016856848.1:n.4667+90dup
NM_001042681.2:c.4667+90dup MANE Select NP_001036146.1:n.4667+90dup
NM_001042682.2:c.3005+90dup NP_001036147.1:n.3005+90dup
NM_012102.4:c.4667+90dup NP_036234.3:n.4667+90dup