Canonical Allele Identifier: CA998365142
Gene: RERE HGNC NCBI

Linked Data

dbSNP Id: rs1641467072
gnomAD v3: 1-8359602-C-CA
gnomAD v4: 1-8359602-C-CA

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.8359603dup , CM000663.2:g.8359603dup GRCh38
NC_000001.10:g.8419663dup , CM000663.1:g.8419663dup GRCh37
NC_000001.9:g.8342250dup NCBI36
NG_047035.1:g.463089dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000465125.2:c.1956+161dup ENSP00000515651.1:n.1956+161dup
ENST00000400908.7:c.3618+161dup MANE Select ENSP00000383700.2:n.3618+161dup
ENST00000337907.7:c.3618+161dup ENSP00000338629.3:n.3618+161dup
ENST00000377464.5:c.2814+161dup ENSP00000366684.1:n.2814+161dup
ENST00000400907.6:c.1541-4004dup ENSP00000383699.2:n.1541-4004dup
ENST00000400908.6:c.3618+161dup ENSP00000383700.2:n.3618+161dup
ENST00000476556.5:c.1956+161dup ENSP00000422246.1:n.1956+161dup
ENST00000505225.1:c.307+1857dup ENSP00000423451.1:n.307+1857dup
NM_001042681.1:c.3618+161dup NP_001036146.1:n.3618+161dup
NM_001042682.1:c.1956+161dup NP_001036147.1:n.1956+161dup
NM_012102.3:c.3618+161dup NP_036234.3:n.3618+161dup
XM_005263464.1:c.3618+161dup XP_005263521.1:n.3618+161dup
XM_005263466.1:c.2814+161dup XP_005263523.1:n.2814+161dup
XM_006710653.1:c.3618+161dup XP_006710716.1:n.3618+161dup
XM_011541510.1:c.3492+161dup XP_011539812.1:n.3492+161dup
XM_011541511.1:c.3395+509dup XP_011539813.1:n.3395+509dup
XM_005263464.2:c.3618+161dup XP_005263521.1:n.3618+161dup
XM_011541510.2:c.3492+161dup XP_011539812.1:n.3492+161dup
XM_011541511.2:c.3395+509dup XP_011539813.1:n.3395+509dup
XM_017001358.1:c.3618+161dup XP_016856847.1:n.3618+161dup
XM_017001359.1:c.3618+161dup XP_016856848.1:n.3618+161dup
NM_001042681.2:c.3618+161dup MANE Select NP_001036146.1:n.3618+161dup
NM_001042682.2:c.1956+161dup NP_001036147.1:n.1956+161dup
NM_012102.4:c.3618+161dup NP_036234.3:n.3618+161dup