Canonical Allele Identifier: CA2808400885
Gene: CTC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8232789_8232790del , CM000679.2:g.8232789_8232790del GRCh38
NC_000017.10:g.8136107_8136108del , CM000679.1:g.8136107_8136108del GRCh37
NC_000017.9:g.8076832_8076833del NCBI36
NG_032148.1:g.20306_20307del
NG_032148.2:g.20306_20307del

Transcript Alleles

HGVS Amino-acid Change
ENST00000580299.2:c.1945+116_1945+117del ENSP00000462607.2:n.1945+116_1945+117del
ENST00000581729.2:c.1945+116_1945+117del ENSP00000462720.2:n.1945+116_1945+117del
ENST00000581967.2:n.2083_2084del
ENST00000583254.2:n.2337_2338del
ENST00000699849.1:c.1048+116_1048+117del ENSP00000514647.1:n.1048+116_1048+117del
ENST00000699850.1:n.1208+116_1208+117del
ENST00000699851.1:n.1967+116_1967+117del
ENST00000699852.1:c.*307_*308del ENSP00000514648.1:n.*307_*308del
ENST00000699853.1:c.1945+116_1945+117del ENSP00000514649.1:n.1945+116_1945+117del
ENST00000699854.1:n.1738+116_1738+117del
ENST00000699855.1:n.2083_2084del
ENST00000699856.1:c.1945+116_1945+117del ENSP00000514650.1:n.1945+116_1945+117del
ENST00000699857.1:n.1953+116_1953+117del
ENST00000699858.1:c.*558+116_*558+117del ENSP00000514651.1:n.*558+116_*558+117del
ENST00000699859.1:c.1816+116_1816+117del ENSP00000514652.1:n.1816+116_1816+117del
ENST00000699860.1:n.51+116_51+117del
ENST00000699861.1:n.1967+116_1967+117del
ENST00000699862.1:n.2591_2592del
ENST00000449476.7:c.1840+116_1840+117del ENSP00000396018.2:n.1840+116_1840+117del
ENST00000581671.2:n.1934+116_1934+117del
ENST00000643543.1:c.*652+116_*652+117del ENSP00000494323.1:n.*652+116_*652+117del
ENST00000651323.1:c.1945+116_1945+117del MANE Select ENSP00000498499.1:n.1945+116_1945+117del
ENST00000315684.12:c.1945+116_1945+117del ENSP00000313759.8:n.1945+116_1945+117del
ENST00000449476.6:c.1840+116_1840+117del ENSP00000396018.2:n.1840+116_1840+117del
ENST00000581967.1:n.464_465del
NM_025099.5:c.1945+116_1945+117del NP_079375.3:n.1945+116_1945+117del
NR_046431.1:n.1899+116_1899+117del
XM_006721577.2:c.1816+116_1816+117del XP_006721640.1:n.1816+116_1816+117del
XM_006721578.2:c.1945+116_1945+117del XP_006721641.1:n.1945+116_1945+117del
XM_006721579.2:c.1945+116_1945+117del XP_006721642.1:n.1945+116_1945+117del
XM_011524010.1:c.1840+116_1840+117del XP_011522312.1:n.1840+116_1840+117del
XM_011524011.1:c.1048+116_1048+117del XP_011522313.1:n.1048+116_1048+117del
XR_429823.2:n.1988+116_1988+117del
XR_429824.2:n.1988+116_1988+117del
XR_429825.1:n.1988+116_1988+117del
NM_025099.6:c.1945+116_1945+117del MANE Select NP_079375.3:n.1945+116_1945+117del
XM_006721577.3:c.1816+116_1816+117del XP_006721640.1:n.1816+116_1816+117del
XM_006721578.3:c.1945+116_1945+117del XP_006721641.1:n.1945+116_1945+117del
XM_011524010.2:c.1840+116_1840+117del XP_011522312.1:n.1840+116_1840+117del
XM_011524011.2:c.1048+116_1048+117del XP_011522313.1:n.1048+116_1048+117del
XR_001752639.1:n.1859+116_1859+117del
XR_001752640.1:n.1988+116_1988+117del
XR_001752641.1:n.1988+116_1988+117del
XR_001752642.1:n.1988+116_1988+117del
XR_001752643.1:n.2104_2105del
XR_001752644.1:n.2104_2105del
XR_002958073.1:n.1988+116_1988+117del
XR_429823.3:n.1988+116_1988+117del
XR_429824.3:n.1988+116_1988+117del
NR_046431.2:n.1860+116_1860+117del