Canonical Allele Identifier: CA287529433
Gene: CTC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1434160
ClinVar RCV Id: RCV001952814
dbSNP Id: rs199473681

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8228591_8228592delinsAT , CM000679.2:g.8228591_8228592delinsAT GRCh38
NC_000017.10:g.8131909_8131910delinsAT , CM000679.1:g.8131909_8131910delinsAT GRCh37
NC_000017.9:g.8072634_8072635delinsAT NCBI36
NG_032148.1:g.24504_24505delinsAT
NG_032148.2:g.24504_24505delinsAT

Transcript Alleles

HGVS Amino-acid change
ENST00000580299.2:c.3161_3162delinsAT ENSP00000462607.2:p.Leu1054His
ENST00000581729.2:c.3194_3195delinsAT ENSP00000462720.2:p.Leu1065His
ENST00000699849.1:c.2297_2298delinsAT ENSP00000514647.1:p.Leu766His
ENST00000699850.1:n.3357_3358delinsAT
ENST00000699851.1:n.4311_4312delinsAT
ENST00000699852.1:c.*1938_*1939delinsAT ENSP00000514648.1:n.*1938_*1939delinsAT
ENST00000699853.1:c.*10_*11delinsAT ENSP00000514649.1:n.*10_*11delinsAT
ENST00000699854.1:n.3984_3985delinsAT
ENST00000699855.1:n.4548_4549delinsAT
ENST00000699856.1:c.*376_*377delinsAT ENSP00000514650.1:n.*376_*377delinsAT
ENST00000699857.1:n.4004_4005delinsAT
ENST00000699858.1:c.*2709_*2710delinsAT ENSP00000514651.1:n.*2709_*2710delinsAT
ENST00000699859.1:c.*161_*162delinsAT ENSP00000514652.1:n.*161_*162delinsAT
ENST00000699860.1:n.2103_2104delinsAT
ENST00000699861.1:n.3888_3889delinsAT
ENST00000449476.7:c.*159_*160delinsAT ENSP00000396018.2:n.*159_*160delinsAT
ENST00000581671.2:n.3414_3415delinsAT
ENST00000643543.1:c.*2132_*2133delinsAT ENSP00000494323.1:n.*2132_*2133delinsAT
ENST00000651323.1:c.3425_3426delinsAT MANE Select ENSP00000498499.1:p.Leu1142His
ENST00000315684.12:c.3425_3426delinsAT ENSP00000313759.8:p.Leu1142His
ENST00000449476.6:c.*159_*160delinsAT ENSP00000396018.2:n.*159_*160delinsAT
ENST00000580299.1:c.332_333delinsAT ENSP00000462607.1:p.Leu111His
ENST00000581729.1:c.142_143delinsAT
NM_025099.5:c.3425_3426delinsAT NP_079375.3:p.Leu1142His
NR_046431.1:n.3314_3315delinsAT
XM_006721577.2:c.3296_3297delinsAT XP_006721640.1:p.Leu1099His
XM_006721578.2:c.3194_3195delinsAT XP_006721641.1:p.Leu1065His
XM_011524010.1:c.3320_3321delinsAT XP_011522312.1:p.Leu1107His
XM_011524011.1:c.2528_2529delinsAT XP_011522313.1:p.Leu843His
XR_429823.2:n.3302_3303delinsAT
XR_429824.2:n.3403_3404delinsAT
NM_025099.6:c.3425_3426delinsAT MANE Select NP_079375.3:p.Leu1142His
XM_006721577.3:c.3296_3297delinsAT XP_006721640.1:p.Leu1099His
XM_006721578.3:c.3194_3195delinsAT XP_006721641.1:p.Leu1065His
XM_011524010.2:c.3320_3321delinsAT XP_011522312.1:p.Leu1107His
XM_011524011.2:c.2528_2529delinsAT XP_011522313.1:p.Leu843His
XR_001752639.1:n.3276_3277delinsAT
XR_001752640.1:n.3424_3425delinsAT
XR_001752641.1:n.3359_3360delinsAT
XR_001752642.1:n.3209_3210delinsAT
XR_002958073.1:n.3715_3716delinsAT
XR_429823.3:n.3302_3303delinsAT
XR_429824.3:n.3403_3404delinsAT
NR_046431.2:n.3275_3276delinsAT