Canonical Allele Identifier: CA2741516767
Gene: CTC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8231343_8231344insGGAGAAGTGCTAACTA , CM000679.2:g.8231343_8231344insGGAGAAGTGCTAACTA GRCh38
NC_000017.10:g.8134661_8134662insGGAGAAGTGCTAACTA , CM000679.1:g.8134661_8134662insGGAGAAGTGCTAACTA GRCh37
NC_000017.9:g.8075386_8075387insGGAGAAGTGCTAACTA NCBI36
NG_032148.1:g.21752_21753insTAGTTAGCACTTCTCC
NG_032148.2:g.21752_21753insTAGTTAGCACTTCTCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000580299.2:c.2601_2602insTAGTTAGCACTTCTCC ENSP00000462607.2:p.Ile868Ter
ENST00000581729.2:c.2601_2602insTAGTTAGCACTTCTCC ENSP00000462720.2:p.Ile868Ter
ENST00000581967.2:n.3053_3054insTAGTTAGCACTTCTCC
ENST00000583254.2:n.3650_3651insTAGTTAGCACTTCTCC
ENST00000699849.1:c.1704_1705insTAGTTAGCACTTCTCC ENSP00000514647.1:p.Ile569Ter
ENST00000699850.1:n.1864_1865insTAGTTAGCACTTCTCC
ENST00000699851.1:n.2623_2624insTAGTTAGCACTTCTCC
ENST00000699852.1:c.*1277_*1278insTAGTTAGCACTTCTCC ENSP00000514648.1:n.*1277_*1278insTAGTTAGCACTTCTCC
ENST00000699853.1:c.2601_2602insTAGTTAGCACTTCTCC ENSP00000514649.1:p.Ile868Ter
ENST00000699854.1:n.2394_2395insTAGTTAGCACTTCTCC
ENST00000699855.1:n.3053_3054insTAGTTAGCACTTCTCC
ENST00000699856.1:c.2601_2602insTAGTTAGCACTTCTCC ENSP00000514650.1:p.Ile868Ter
ENST00000699857.1:n.2609_2610insTAGTTAGCACTTCTCC
ENST00000699858.1:c.*1214_*1215insTAGTTAGCACTTCTCC ENSP00000514651.1:n.*1214_*1215insTAGTTAGCACTTCTCC
ENST00000699859.1:c.2472_2473insTAGTTAGCACTTCTCC ENSP00000514652.1:p.Ile825Ter
ENST00000699860.1:n.581+382_581+383insTAGTTAGCACTTCTCC
ENST00000699861.1:n.2623_2624insTAGTTAGCACTTCTCC
ENST00000699862.1:n.3561_3562insTAGTTAGCACTTCTCC
ENST00000449476.7:c.2496_2497insTAGTTAGCACTTCTCC ENSP00000396018.2:p.Ile833Ter
ENST00000581671.2:n.2590_2591insTAGTTAGCACTTCTCC
ENST00000643543.1:c.*1308_*1309insTAGTTAGCACTTCTCC ENSP00000494323.1:n.*1308_*1309insTAGTTAGCACTTCTCC
ENST00000651323.1:c.2601_2602insTAGTTAGCACTTCTCC MANE Select ENSP00000498499.1:p.Ile868Ter
ENST00000315684.12:c.2601_2602insTAGTTAGCACTTCTCC ENSP00000313759.8:p.Ile868Ter
ENST00000449476.6:c.2496_2497insTAGTTAGCACTTCTCC ENSP00000396018.2:p.Ile833Ter
ENST00000578240.1:n.829_830insTAGTTAGCACTTCTCC
ENST00000578441.5:n.102_103insTAGTTAGCACTTCTCC
ENST00000578537.1:c.371+382_371+383insTAGTTAGCACTTCTCC
NM_025099.5:c.2601_2602insTAGTTAGCACTTCTCC NP_079375.3:p.Ile868Ter
NR_046431.1:n.2555_2556insTAGTTAGCACTTCTCC
XM_006721577.2:c.2472_2473insTAGTTAGCACTTCTCC XP_006721640.1:p.Ile825Ter
XM_006721578.2:c.2601_2602insTAGTTAGCACTTCTCC XP_006721641.1:p.Ile868Ter
XM_006721579.2:c.2601_2602insTAGTTAGCACTTCTCC XP_006721642.1:p.Ile868Ter
XM_011524010.1:c.2496_2497insTAGTTAGCACTTCTCC XP_011522312.1:p.Ile833Ter
XM_011524011.1:c.1704_1705insTAGTTAGCACTTCTCC XP_011522313.1:p.Ile569Ter
XR_429823.2:n.2644_2645insTAGTTAGCACTTCTCC
XR_429824.2:n.2644_2645insTAGTTAGCACTTCTCC
XR_429825.1:n.2518+382_2518+383insTAGTTAGCACTTCTCC
NM_025099.6:c.2601_2602insTAGTTAGCACTTCTCC MANE Select NP_079375.3:p.Ile868Ter
XM_006721577.3:c.2472_2473insTAGTTAGCACTTCTCC XP_006721640.1:p.Ile825Ter
XM_006721578.3:c.2601_2602insTAGTTAGCACTTCTCC XP_006721641.1:p.Ile868Ter
XM_011524010.2:c.2496_2497insTAGTTAGCACTTCTCC XP_011522312.1:p.Ile833Ter
XM_011524011.2:c.1704_1705insTAGTTAGCACTTCTCC XP_011522313.1:p.Ile569Ter
XR_001752639.1:n.2515_2516insTAGTTAGCACTTCTCC
XR_001752640.1:n.2644_2645insTAGTTAGCACTTCTCC
XR_001752641.1:n.2644_2645insTAGTTAGCACTTCTCC
XR_001752642.1:n.2518+382_2518+383insTAGTTAGCACTTCTCC
XR_001752643.1:n.3074_3075insTAGTTAGCACTTCTCC
XR_002958073.1:n.2518+382_2518+383insTAGTTAGCACTTCTCC
XR_429823.3:n.2644_2645insTAGTTAGCACTTCTCC
XR_429824.3:n.2644_2645insTAGTTAGCACTTCTCC
NR_046431.2:n.2516_2517insTAGTTAGCACTTCTCC