Canonical Allele Identifier: CA129612
Gene: CTC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8230401del , CM000679.2:g.8230401del GRCh38
NC_000017.10:g.8133719del , CM000679.1:g.8133719del GRCh37
NC_000017.9:g.8074444del NCBI36
NG_032148.1:g.22700del
NG_032148.2:g.22700del

Transcript Alleles

HGVS Amino-acid Change
ENST00000580299.2:c.2831del ENSP00000462607.2:p.Pro944LeufsTer7
ENST00000581729.2:c.2831del ENSP00000462720.2:p.Pro944LeufsTer7
ENST00000581967.2:n.3283del
ENST00000583254.2:n.4504del
ENST00000699849.1:c.1934del ENSP00000514647.1:p.Pro645LeufsTer7
ENST00000699850.1:n.2094del
ENST00000699851.1:n.2853del
ENST00000699852.1:c.*1457-48del ENSP00000514648.1:n.*1457-48del
ENST00000699853.1:c.2831del ENSP00000514649.1:p.Pro944LeufsTer7
ENST00000699854.1:n.2624del
ENST00000699855.1:n.3283del
ENST00000699856.1:c.2831del ENSP00000514650.1:p.Pro944LeufsTer7
ENST00000699857.1:n.2789-48del
ENST00000699858.1:c.*1444del ENSP00000514651.1:n.*1444del
ENST00000699859.1:c.2702del ENSP00000514652.1:p.Pro901LeufsTer7
ENST00000699860.1:n.743del
ENST00000699861.1:n.2853del
ENST00000699862.1:n.3791del
ENST00000449476.7:c.2726del ENSP00000396018.2:p.Pro909LeufsTer7
ENST00000581671.2:n.2820del
ENST00000643543.1:c.*1538del ENSP00000494323.1:n.*1538del
ENST00000651323.1:c.2831del MANE Select ENSP00000498499.1:p.Pro944LeufsTer7
ENST00000315684.12:c.2831del ENSP00000313759.8:p.Pro944LeufsTer7
ENST00000449476.6:c.2726del ENSP00000396018.2:p.Pro909LeufsTer7
ENST00000578240.1:n.1059del
ENST00000578441.5:n.282-48del
ENST00000578537.1:c.533del
ENST00000584439.1:n.444del
NM_025099.5:c.2831del NP_079375.3:p.Pro944LeufsTer7
NR_046431.1:n.2785del
XM_006721577.2:c.2702del XP_006721640.1:p.Pro901LeufsTer7
XM_006721578.2:c.2831del XP_006721641.1:p.Pro944LeufsTer7
XM_006721579.2:c.2831del XP_006721642.1:p.Pro944LeufsTer7
XM_011524010.1:c.2726del XP_011522312.1:p.Pro909LeufsTer7
XM_011524011.1:c.1934del XP_011522313.1:p.Pro645LeufsTer7
XR_429823.2:n.2874del
XR_429824.2:n.2874del
XR_429825.1:n.2680del
NM_025099.6:c.2831del MANE Select NP_079375.3:p.Pro944LeufsTer7
XM_006721577.3:c.2702del XP_006721640.1:p.Pro901LeufsTer7
XM_006721578.3:c.2831del XP_006721641.1:p.Pro944LeufsTer7
XM_011524010.2:c.2726del XP_011522312.1:p.Pro909LeufsTer7
XM_011524011.2:c.1934del XP_011522313.1:p.Pro645LeufsTer7
XR_001752639.1:n.2745del
XR_001752640.1:n.2874del
XR_001752641.1:n.2874del
XR_001752642.1:n.2680del
XR_001752643.1:n.3304del
XR_002958073.1:n.2680del
XR_429823.3:n.2874del
XR_429824.3:n.2874del
NR_046431.2:n.2746del