Canonical Allele Identifier: CA287529157
Gene: CTC1 HGNC NCBI

Linked Data

dbSNP Id: rs199473683

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8228233_8228253del , CM000679.2:g.8228233_8228253del GRCh38
NC_000017.10:g.8131551_8131571del , CM000679.1:g.8131551_8131571del GRCh37
NC_000017.9:g.8072276_8072296del NCBI36
NG_032148.1:g.24848_24868del
NG_032148.2:g.24848_24868del

Transcript Alleles

HGVS Amino-acid change
ENST00000580299.2:c.3322_3342del ENSP00000462607.2:p.Leu1108_Arg1114del
ENST00000581729.2:c.3355_3375del ENSP00000462720.2:p.Leu1119_Arg1125del
ENST00000699849.1:c.2458_2478del ENSP00000514647.1:p.Leu820_Arg826del
ENST00000699850.1:n.3518_3538del
ENST00000699851.1:n.4472_4492del
ENST00000699852.1:c.*2099_*2119del ENSP00000514648.1:n.*2099_*2119del
ENST00000699853.1:c.*171_*191del ENSP00000514649.1:n.*171_*191del
ENST00000699854.1:n.4145_4165del
ENST00000699855.1:n.4709_4729del
ENST00000699856.1:c.*537_*557del ENSP00000514650.1:n.*537_*557del
ENST00000699857.1:n.4165_4185del
ENST00000699858.1:c.*2870_*2890del ENSP00000514651.1:n.*2870_*2890del
ENST00000699859.1:c.*322_*342del ENSP00000514652.1:n.*322_*342del
ENST00000699860.1:n.2264_2284del
ENST00000699861.1:n.4049_4069del
ENST00000449476.7:c.*320_*340del ENSP00000396018.2:n.*320_*340del
ENST00000581671.2:n.3575_3595del
ENST00000643543.1:c.*2293_*2313del ENSP00000494323.1:n.*2293_*2313del
ENST00000651323.1:c.3586_3606del MANE Select ENSP00000498499.1:p.Leu1196_Arg1202del
ENST00000315684.12:c.3586_3606del ENSP00000313759.8:p.Leu1196_Arg1202del
ENST00000449476.6:c.*320_*340del ENSP00000396018.2:n.*320_*340del
ENST00000581729.1:c.303_323del
NM_025099.5:c.3586_3606del NP_079375.3:p.Leu1196_Arg1202del
NR_046431.1:n.3475_3495del
XM_006721577.2:c.3457_3477del XP_006721640.1:p.Leu1153_Arg1159del
XM_006721578.2:c.3355_3375del XP_006721641.1:p.Leu1119_Arg1125del
XM_011524010.1:c.3481_3501del XP_011522312.1:p.Leu1161_Arg1167del
XM_011524011.1:c.2689_2709del XP_011522313.1:p.Leu897_Arg903del
XR_429823.2:n.3463_3483del
XR_429824.2:n.3564_3584del
NM_025099.6:c.3586_3606del MANE Select NP_079375.3:p.Leu1196_Arg1202del
XM_006721577.3:c.3457_3477del XP_006721640.1:p.Leu1153_Arg1159del
XM_006721578.3:c.3355_3375del XP_006721641.1:p.Leu1119_Arg1125del
XM_011524010.2:c.3481_3501del XP_011522312.1:p.Leu1161_Arg1167del
XM_011524011.2:c.2689_2709del XP_011522313.1:p.Leu897_Arg903del
XR_001752639.1:n.3437_3457del
XR_001752640.1:n.3585_3605del
XR_001752641.1:n.3520_3540del
XR_001752642.1:n.3370_3390del
XR_002958073.1:n.3876_3896del
XR_429823.3:n.3463_3483del
XR_429824.3:n.3564_3584del
NR_046431.2:n.3436_3456del