Canonical Allele Identifier: CA2832533832
Gene: RERE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.8360035_8360036insCGCCCACCCTCCCCCCACAAAATTGCCCCCCCCCCCCCCCCCT , CM000663.2:g.8360035_8360036insCGCCCACCCTCCCCCCACAAAATTGCCCCCCCCCCCCCCCCCT GRCh38
NC_000001.10:g.8420095_8420096insCGCCCACCCTCCCCCCACAAAATTGCCCCCCCCCCCCCCCCCT , CM000663.1:g.8420095_8420096insCGCCCACCCTCCCCCCACAAAATTGCCCCCCCCCCCCCCCCCT GRCh37
NC_000001.9:g.8342682_8342683insCGCCCACCCTCCCCCCACAAAATTGCCCCCCCCCCCCCCCCCT NCBI36
NG_047035.1:g.462656_462657insAGGGGGGGGGGGGGGGGGCAATTTTGTGGGGGGAGGGTGGGCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000465125.2:c.1734-50_1734-49insAGGGGGGGGGGGGGGGGGCAATTTTGTGGGGGGAGGGTGGGCG ENSP00000515651.1:n.1734-50_1734-49insAGGGGGGGGGGGGGGGGGCAATT...
ENST00000400908.7:c.3396-50_3396-49insAGGGGGGGGGGGGGGGGGCAATTTTGTGGGGGGAGGGTGGGCG MANE Select ENSP00000383700.2:n.3396-50_3396-49insAGGGGGGGGGGGGGGGGGCAATT...
ENST00000337907.7:c.3396-50_3396-49insAGGGGGGGGGGGGGGGGGCAATTTTGTGGGGGGAGGGTGGGCG ENSP00000338629.3:n.3396-50_3396-49insAGGGGGGGGGGGGGGGGGCAATT...
ENST00000377464.5:c.2592-50_2592-49insAGGGGGGGGGGGGGGGGGCAATTTTGTGGGGGGAGGGTGGGCG ENSP00000366684.1:n.2592-50_2592-49insAGGGGGGGGGGGGGGGGGCAATT...
ENST00000400907.6:c.1541-4437_1541-4436insAGGGGGGGGGGGGGGGGGCAATTTTGTGGGGGGAGGGTGGGCG ENSP00000383699.2:n.1541-4437_1541-4436insAGGGGGGGGGGGGGGGGGC...
ENST00000400908.6:c.3396-50_3396-49insAGGGGGGGGGGGGGGGGGCAATTTTGTGGGGGGAGGGTGGGCG ENSP00000383700.2:n.3396-50_3396-49insAGGGGGGGGGGGGGGGGGCAATT...
ENST00000476556.5:c.1734-50_1734-49insAGGGGGGGGGGGGGGGGGCAATTTTGTGGGGGGAGGGTGGGCG ENSP00000422246.1:n.1734-50_1734-49insAGGGGGGGGGGGGGGGGGCAATT...
ENST00000505225.1:c.307+1424_307+1425insAGGGGGGGGGGGGGGGGGCAATTTTGTGGGGGGAGGGTGGGCG ENSP00000423451.1:n.307+1424_307+1425insAGGGGGGGGGGGGGGGGGCAA...
NM_001042681.1:c.3396-50_3396-49insAGGGGGGGGGGGGGGGGGCAATTTTGTGGGGGGAGGGTGGGCG NP_001036146.1:n.3396-50_3396-49insAGGGGGGGGGGGGGGGGGCAATTTTG...
NM_001042682.1:c.1734-50_1734-49insAGGGGGGGGGGGGGGGGGCAATTTTGTGGGGGGAGGGTGGGCG NP_001036147.1:n.1734-50_1734-49insAGGGGGGGGGGGGGGGGGCAATTTTG...
NM_012102.3:c.3396-50_3396-49insAGGGGGGGGGGGGGGGGGCAATTTTGTGGGGGGAGGGTGGGCG NP_036234.3:n.3396-50_3396-49insAGGGGGGGGGGGGGGGGGCAATTTTGTGG...
XM_005263464.1:c.3396-50_3396-49insAGGGGGGGGGGGGGGGGGCAATTTTGTGGGGGGAGGGTGGGCG XP_005263521.1:n.3396-50_3396-49insAGGGGGGGGGGGGGGGGGCAATTTTG...
XM_005263466.1:c.2592-50_2592-49insAGGGGGGGGGGGGGGGGGCAATTTTGTGGGGGGAGGGTGGGCG XP_005263523.1:n.2592-50_2592-49insAGGGGGGGGGGGGGGGGGCAATTTTG...
XM_006710653.1:c.3396-50_3396-49insAGGGGGGGGGGGGGGGGGCAATTTTGTGGGGGGAGGGTGGGCG XP_006710716.1:n.3396-50_3396-49insAGGGGGGGGGGGGGGGGGCAATTTTG...
XM_011541510.1:c.3270-50_3270-49insAGGGGGGGGGGGGGGGGGCAATTTTGTGGGGGGAGGGTGGGCG XP_011539812.1:n.3270-50_3270-49insAGGGGGGGGGGGGGGGGGCAATTTTG...
XM_011541511.1:c.3395+76_3395+77insAGGGGGGGGGGGGGGGGGCAATTTTGTGGGGGGAGGGTGGGCG XP_011539813.1:n.3395+76_3395+77insAGGGGGGGGGGGGGGGGGCAATTTTG...
XM_005263464.2:c.3396-50_3396-49insAGGGGGGGGGGGGGGGGGCAATTTTGTGGGGGGAGGGTGGGCG XP_005263521.1:n.3396-50_3396-49insAGGGGGGGGGGGGGGGGGCAATTTTG...
XM_011541510.2:c.3270-50_3270-49insAGGGGGGGGGGGGGGGGGCAATTTTGTGGGGGGAGGGTGGGCG XP_011539812.1:n.3270-50_3270-49insAGGGGGGGGGGGGGGGGGCAATTTTG...
XM_011541511.2:c.3395+76_3395+77insAGGGGGGGGGGGGGGGGGCAATTTTGTGGGGGGAGGGTGGGCG XP_011539813.1:n.3395+76_3395+77insAGGGGGGGGGGGGGGGGGCAATTTTG...
XM_017001358.1:c.3396-50_3396-49insAGGGGGGGGGGGGGGGGGCAATTTTGTGGGGGGAGGGTGGGCG XP_016856847.1:n.3396-50_3396-49insAGGGGGGGGGGGGGGGGGCAATTTTG...
XM_017001359.1:c.3396-50_3396-49insAGGGGGGGGGGGGGGGGGCAATTTTGTGGGGGGAGGGTGGGCG XP_016856848.1:n.3396-50_3396-49insAGGGGGGGGGGGGGGGGGCAATTTTG...
NM_001042681.2:c.3396-50_3396-49insAGGGGGGGGGGGGGGGGGCAATTTTGTGGGGGGAGGGTGGGCG MANE Select NP_001036146.1:n.3396-50_3396-49insAGGGGGGGGGGGGGGGGGCAATTTTG...
NM_001042682.2:c.1734-50_1734-49insAGGGGGGGGGGGGGGGGGCAATTTTGTGGGGGGAGGGTGGGCG NP_001036147.1:n.1734-50_1734-49insAGGGGGGGGGGGGGGGGGCAATTTTG...
NM_012102.4:c.3396-50_3396-49insAGGGGGGGGGGGGGGGGGCAATTTTGTGGGGGGAGGGTGGGCG NP_036234.3:n.3396-50_3396-49insAGGGGGGGGGGGGGGGGGCAATTTTGTGG...