Canonical Allele Identifier: CA2499225036
Community Standard Title: NM_025099.6(CTC1):c.3515-8del
Gene: CTC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8228329del , CM000679.2:g.8228329del GRCh38
NC_000017.10:g.8131647del , CM000679.1:g.8131647del GRCh37
NC_000017.9:g.8072372del NCBI36
NG_032148.1:g.24769del
NG_032148.2:g.24769del

Transcript Alleles

HGVS Amino-acid Change
NM_025099.6:c.3515-8del MANE Select NP_079375.3:n.3515-8del
ENST00000651323.1:c.3515-8del MANE Select ENSP00000498499.1:n.3515-8del
NM_025099.5:c.3515-8del NP_079375.3:n.3515-8del
NR_046431.1:n.3404-8del
NR_046431.2:n.3365-8del
ENST00000315684.12:c.3515-8del ENSP00000313759.8:n.3515-8del
ENST00000449476.6:c.*249-8del ENSP00000396018.2:n.*249-8del
ENST00000449476.7:c.*249-8del ENSP00000396018.2:n.*249-8del
ENST00000580299.2:c.3251-8del ENSP00000462607.2:n.3251-8del
ENST00000581671.2:n.3504-8del
ENST00000581729.1:c.232-8del
ENST00000581729.2:c.3284-8del ENSP00000462720.2:n.3284-8del
ENST00000643543.1:c.*2222-8del ENSP00000494323.1:n.*2222-8del
ENST00000699849.1:c.2387-8del ENSP00000514647.1:n.2387-8del
ENST00000699850.1:n.3447-8del
ENST00000699851.1:n.4401-8del
ENST00000699852.1:c.*2028-8del ENSP00000514648.1:n.*2028-8del
ENST00000699853.1:c.*100-8del ENSP00000514649.1:n.*100-8del
ENST00000699854.1:n.4074-8del
ENST00000699855.1:n.4638-8del
ENST00000699856.1:c.*466-8del ENSP00000514650.1:n.*466-8del
ENST00000699857.1:n.4094-8del
ENST00000699858.1:c.*2799-8del ENSP00000514651.1:n.*2799-8del
ENST00000699859.1:c.*251-8del ENSP00000514652.1:n.*251-8del
ENST00000699860.1:n.2193-8del
ENST00000699861.1:n.3978-8del
XM_006721577.2:c.3386-8del XP_006721640.1:n.3386-8del
XM_006721577.3:c.3386-8del XP_006721640.1:n.3386-8del
XM_006721578.2:c.3284-8del XP_006721641.1:n.3284-8del
XM_006721578.3:c.3284-8del XP_006721641.1:n.3284-8del
XM_011524010.1:c.3410-8del XP_011522312.1:n.3410-8del
XM_011524010.2:c.3410-8del XP_011522312.1:n.3410-8del
XM_011524011.1:c.2618-8del XP_011522313.1:n.2618-8del
XM_011524011.2:c.2618-8del XP_011522313.1:n.2618-8del
XR_001752639.1:n.3366-8del
XR_001752640.1:n.3514-8del
XR_001752641.1:n.3449-8del
XR_001752642.1:n.3299-8del
XR_002958073.1:n.3805-8del
XR_429823.2:n.3392-8del
XR_429823.3:n.3392-8del
XR_429824.2:n.3493-8del
XR_429824.3:n.3493-8del