Canonical Allele Identifier: CA2838302071
Gene: CTC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8231412dup , CM000679.2:g.8231412dup GRCh38
NC_000017.10:g.8134730dup , CM000679.1:g.8134730dup GRCh37
NC_000017.9:g.8075455dup NCBI36
NG_032148.1:g.21685dup
NG_032148.2:g.21685dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000580299.2:c.2534dup ENSP00000462607.2:p.Leu845PhefsTer19
ENST00000581729.2:c.2534dup ENSP00000462720.2:p.Leu845PhefsTer19
ENST00000581967.2:n.2986dup
ENST00000583254.2:n.3583dup
ENST00000699849.1:c.1637dup ENSP00000514647.1:p.Leu546PhefsTer19
ENST00000699850.1:n.1797dup
ENST00000699851.1:n.2556dup
ENST00000699852.1:c.*1210dup ENSP00000514648.1:n.*1210dup
ENST00000699853.1:c.2534dup ENSP00000514649.1:p.Leu845PhefsTer19
ENST00000699854.1:n.2327dup
ENST00000699855.1:n.2986dup
ENST00000699856.1:c.2534dup ENSP00000514650.1:p.Leu845PhefsTer19
ENST00000699857.1:n.2542dup
ENST00000699858.1:c.*1147dup ENSP00000514651.1:n.*1147dup
ENST00000699859.1:c.2405dup ENSP00000514652.1:p.Leu802PhefsTer19
ENST00000699860.1:n.581+315dup
ENST00000699861.1:n.2556dup
ENST00000699862.1:n.3494dup
ENST00000449476.7:c.2429dup ENSP00000396018.2:p.Leu810PhefsTer19
ENST00000581671.2:n.2523dup
ENST00000643543.1:c.*1241dup ENSP00000494323.1:n.*1241dup
ENST00000651323.1:c.2534dup MANE Select ENSP00000498499.1:p.Leu845PhefsTer19
ENST00000315684.12:c.2534dup ENSP00000313759.8:p.Leu845PhefsTer19
ENST00000449476.6:c.2429dup ENSP00000396018.2:p.Leu810PhefsTer19
ENST00000578240.1:n.762dup
ENST00000578441.5:n.35dup
ENST00000578537.1:c.371+315dup
NM_025099.5:c.2534dup NP_079375.3:p.Leu845PhefsTer19
NR_046431.1:n.2488dup
XM_006721577.2:c.2405dup XP_006721640.1:p.Leu802PhefsTer19
XM_006721578.2:c.2534dup XP_006721641.1:p.Leu845PhefsTer19
XM_006721579.2:c.2534dup XP_006721642.1:p.Leu845PhefsTer19
XM_011524010.1:c.2429dup XP_011522312.1:p.Leu810PhefsTer19
XM_011524011.1:c.1637dup XP_011522313.1:p.Leu546PhefsTer19
XR_429823.2:n.2577dup
XR_429824.2:n.2577dup
XR_429825.1:n.2518+315dup
NM_025099.6:c.2534dup MANE Select NP_079375.3:p.Leu845PhefsTer19
XM_006721577.3:c.2405dup XP_006721640.1:p.Leu802PhefsTer19
XM_006721578.3:c.2534dup XP_006721641.1:p.Leu845PhefsTer19
XM_011524010.2:c.2429dup XP_011522312.1:p.Leu810PhefsTer19
XM_011524011.2:c.1637dup XP_011522313.1:p.Leu546PhefsTer19
XR_001752639.1:n.2448dup
XR_001752640.1:n.2577dup
XR_001752641.1:n.2577dup
XR_001752642.1:n.2518+315dup
XR_001752643.1:n.3007dup
XR_002958073.1:n.2518+315dup
XR_429823.3:n.2577dup
XR_429824.3:n.2577dup
NR_046431.2:n.2449dup