Canonical Allele Identifier: CA1152321042
Gene: RERE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.8359790_8359814delinsGCTCTCGCTCCCGCTCCCGCTCCTT , CM000663.2:g.8359790_8359814delinsGCTCTCGCTCCCGCTCCCGCTCCTT GRCh38
NC_000001.10:g.8419850_8419874delinsGCTCTCGCTCCCGCTCCCGCTCCTT , CM000663.1:g.8419850_8419874delinsGCTCTCGCTCCCGCTCCCGCTCCTT GRCh37
NC_000001.9:g.8342437_8342461delinsGCTCTCGCTCCCGCTCCCGCTCCTT NCBI36
NG_047035.1:g.462878_462902delinsAAGGAGCGGGAGCGGGAGCGAGAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000465125.2:c.1906_1930delinsAAGGAGCGGGAGCGGGAGCGAGAGC ENSP00000515651.1:p.Lys636=
ENST00000400908.7:c.3568_3592delinsAAGGAGCGGGAGCGGGAGCGAGAGC MANE Select ENSP00000383700.2:p.Lys1190=
ENST00000337907.7:c.3568_3592delinsAAGGAGCGGGAGCGGGAGCGAGAGC ENSP00000338629.3:p.Lys1190=
ENST00000377464.5:c.2764_2788delinsAAGGAGCGGGAGCGGGAGCGAGAGC ENSP00000366684.1:p.Lys922=
ENST00000400907.6:c.1541-4215_1541-4191delinsAAGGAGCGGGAGCGGGAGCGAGAGC ENSP00000383699.2:n.1541-4215_1541-4191delinsAAGGAGCGGGAGCGGG...
ENST00000400908.6:c.3568_3592delinsAAGGAGCGGGAGCGGGAGCGAGAGC ENSP00000383700.2:p.Lys1190=
ENST00000476556.5:c.1906_1930delinsAAGGAGCGGGAGCGGGAGCGAGAGC ENSP00000422246.1:p.Lys636=
ENST00000505225.1:c.307+1646_307+1670delinsAAGGAGCGGGAGCGGGAGCGAGAGC ENSP00000423451.1:n.307+1646_307+1670delinsAAGGAGCGGGAGCGGGAG...
NM_001042681.1:c.3568_3592delinsAAGGAGCGGGAGCGGGAGCGAGAGC NP_001036146.1:p.Lys1190=
NM_001042682.1:c.1906_1930delinsAAGGAGCGGGAGCGGGAGCGAGAGC NP_001036147.1:p.Lys636=
NM_012102.3:c.3568_3592delinsAAGGAGCGGGAGCGGGAGCGAGAGC NP_036234.3:p.Lys1190=
XM_005263464.1:c.3568_3592delinsAAGGAGCGGGAGCGGGAGCGAGAGC XP_005263521.1:p.Lys1190=
XM_005263466.1:c.2764_2788delinsAAGGAGCGGGAGCGGGAGCGAGAGC XP_005263523.1:p.Lys922=
XM_006710653.1:c.3568_3592delinsAAGGAGCGGGAGCGGGAGCGAGAGC XP_006710716.1:p.Lys1190=
XM_011541510.1:c.3442_3466delinsAAGGAGCGGGAGCGGGAGCGAGAGC XP_011539812.1:p.Lys1148=
XM_011541511.1:c.3395+298_3395+322delinsAAGGAGCGGGAGCGGGAGCGAGAGC XP_011539813.1:n.3395+298_3395+322delinsAAGGAGCGGGAGCGGGAGCGA...
XM_005263464.2:c.3568_3592delinsAAGGAGCGGGAGCGGGAGCGAGAGC XP_005263521.1:p.Lys1190=
XM_011541510.2:c.3442_3466delinsAAGGAGCGGGAGCGGGAGCGAGAGC XP_011539812.1:p.Lys1148=
XM_011541511.2:c.3395+298_3395+322delinsAAGGAGCGGGAGCGGGAGCGAGAGC XP_011539813.1:n.3395+298_3395+322delinsAAGGAGCGGGAGCGGGAGCGA...
XM_017001358.1:c.3568_3592delinsAAGGAGCGGGAGCGGGAGCGAGAGC XP_016856847.1:p.Lys1190=
XM_017001359.1:c.3568_3592delinsAAGGAGCGGGAGCGGGAGCGAGAGC XP_016856848.1:p.Lys1190=
NM_001042681.2:c.3568_3592delinsAAGGAGCGGGAGCGGGAGCGAGAGC MANE Select NP_001036146.1:p.Lys1190=
NM_001042682.2:c.1906_1930delinsAAGGAGCGGGAGCGGGAGCGAGAGC NP_001036147.1:p.Lys636=
NM_012102.4:c.3568_3592delinsAAGGAGCGGGAGCGGGAGCGAGAGC NP_036234.3:p.Lys1190=