Canonical Allele Identifier: CA2697559402

Gene: CTC1

Linked Data

• ClinVar Variation Id: 2709416
• ClinVar RCV Id: RCV003530584

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8231732del , CM000679.2:g.8231732del	GRCh38
NC_000017.10:g.8135050del , CM000679.1:g.8135050del	GRCh37
NC_000017.9:g.8075775del	NCBI36
NG_032148.1:g.21367del
NG_032148.2:g.21367del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2472del	ENSP00000462607.2:p.Ala825LeufsTer?
ENST00000581729.2:c.2472del	ENSP00000462720.2:p.Ala825LeufsTer?
ENST00000581967.2:n.2924del
ENST00000583254.2:n.3265del
ENST00000699849.1:c.1575del	ENSP00000514647.1:p.Ala526LeufsTer?
ENST00000699850.1:n.1735del
ENST00000699851.1:n.2494del
ENST00000699852.1:c.*1148del	ENSP00000514648.1:n.*1148del
ENST00000699853.1:c.2472del	ENSP00000514649.1:p.Ala825LeufsTer?
ENST00000699854.1:n.2265del
ENST00000699855.1:n.2924del
ENST00000699856.1:c.2472del	ENSP00000514650.1:p.Ala825LeufsTer?
ENST00000699857.1:n.2480del
ENST00000699858.1:c.*1085del	ENSP00000514651.1:n.*1085del
ENST00000699859.1:c.2343del	ENSP00000514652.1:p.Ala782LeufsTer?
ENST00000699860.1:n.578del
ENST00000699861.1:n.2494del
ENST00000699862.1:n.3432del
ENST00000449476.7:c.2367del	ENSP00000396018.2:p.Ala790LeufsTer?
ENST00000581671.2:n.2461del
ENST00000643543.1:c.*1179del	ENSP00000494323.1:n.*1179del
ENST00000651323.1:c.2472del MANE Select	ENSP00000498499.1:p.Ala825LeufsTer?
ENST00000315684.12:c.2472del	ENSP00000313759.8:p.Ala825LeufsTer?
ENST00000449476.6:c.2367del	ENSP00000396018.2:p.Ala790LeufsTer?
ENST00000578240.1:n.700del
ENST00000578537.1:c.368del
NM_025099.5:c.2472del	NP_079375.3:p.Ala825LeufsTer?
NR_046431.1:n.2426del
XM_006721577.2:c.2343del	XP_006721640.1:p.Ala782LeufsTer?
XM_006721578.2:c.2472del	XP_006721641.1:p.Ala825LeufsTer?
XM_006721579.2:c.2472del	XP_006721642.1:p.Ala825LeufsTer?
XM_011524010.1:c.2367del	XP_011522312.1:p.Ala790LeufsTer?
XM_011524011.1:c.1575del	XP_011522313.1:p.Ala526LeufsTer?
XR_429823.2:n.2515del
XR_429824.2:n.2515del
XR_429825.1:n.2515del
NM_025099.6:c.2472del MANE Select	NP_079375.3:p.Ala825LeufsTer?
XM_006721577.3:c.2343del	XP_006721640.1:p.Ala782LeufsTer?
XM_006721578.3:c.2472del	XP_006721641.1:p.Ala825LeufsTer?
XM_011524010.2:c.2367del	XP_011522312.1:p.Ala790LeufsTer?
XM_011524011.2:c.1575del	XP_011522313.1:p.Ala526LeufsTer?
XR_001752639.1:n.2386del
XR_001752640.1:n.2515del
XR_001752641.1:n.2515del
XR_001752642.1:n.2515del
XR_001752643.1:n.2945del
XR_002958073.1:n.2515del
XR_429823.3:n.2515del
XR_429824.3:n.2515del
NR_046431.2:n.2387del