Canonical Allele Identifier: CA2580094915

Gene: CTC1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8228249del , CM000679.2:g.8228249del	GRCh38
NC_000017.10:g.8131567del , CM000679.1:g.8131567del	GRCh37
NC_000017.9:g.8072292del	NCBI36
NG_032148.1:g.24847del
NG_032148.2:g.24847del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.3321del	ENSP00000462607.2:p.Leu1108CysfsTer24
ENST00000581729.2:c.3354del	ENSP00000462720.2:p.Leu1119CysfsTer24
ENST00000699849.1:c.2457del	ENSP00000514647.1:p.Leu820CysfsTer24
ENST00000699850.1:n.3517del
ENST00000699851.1:n.4471del
ENST00000699852.1:c.*2098del	ENSP00000514648.1:n.*2098del
ENST00000699853.1:c.*170del	ENSP00000514649.1:n.*170del
ENST00000699854.1:n.4144del
ENST00000699855.1:n.4708del
ENST00000699856.1:c.*536del	ENSP00000514650.1:n.*536del
ENST00000699857.1:n.4164del
ENST00000699858.1:c.*2869del	ENSP00000514651.1:n.*2869del
ENST00000699859.1:c.*321del	ENSP00000514652.1:n.*321del
ENST00000699860.1:n.2263del
ENST00000699861.1:n.4048del
ENST00000449476.7:c.*319del	ENSP00000396018.2:n.*319del
ENST00000581671.2:n.3574del
ENST00000643543.1:c.*2292del	ENSP00000494323.1:n.*2292del
ENST00000651323.1:c.3585del MANE Select	ENSP00000498499.1:p.Leu1196CysfsTer24
ENST00000315684.12:c.3585del	ENSP00000313759.8:p.Leu1196CysfsTer24
ENST00000449476.6:c.*319del	ENSP00000396018.2:n.*319del
ENST00000581729.1:c.302del
NM_025099.5:c.3585del	NP_079375.3:p.Leu1196CysfsTer24
NR_046431.1:n.3474del
XM_006721577.2:c.3456del	XP_006721640.1:p.Leu1153CysfsTer24
XM_006721578.2:c.3354del	XP_006721641.1:p.Leu1119CysfsTer24
XM_011524010.1:c.3480del	XP_011522312.1:p.Leu1161CysfsTer24
XM_011524011.1:c.2688del	XP_011522313.1:p.Leu897CysfsTer24
XR_429823.2:n.3462del
XR_429824.2:n.3563del
NM_025099.6:c.3585del MANE Select	NP_079375.3:p.Leu1196CysfsTer24
XM_006721577.3:c.3456del	XP_006721640.1:p.Leu1153CysfsTer24
XM_006721578.3:c.3354del	XP_006721641.1:p.Leu1119CysfsTer24
XM_011524010.2:c.3480del	XP_011522312.1:p.Leu1161CysfsTer24
XM_011524011.2:c.2688del	XP_011522313.1:p.Leu897CysfsTer24
XR_001752639.1:n.3436del
XR_001752640.1:n.3584del
XR_001752641.1:n.3519del
XR_001752642.1:n.3369del
XR_002958073.1:n.3875del
XR_429823.3:n.3462del
XR_429824.3:n.3563del
NR_046431.2:n.3435del