Canonical Allele Identifier: CA2576162910

Gene: CTC1

Linked Data

• gnomAD v4: 17-8231291-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8231292dup , CM000679.2:g.8231292dup	GRCh38
NC_000017.10:g.8134610dup , CM000679.1:g.8134610dup	GRCh37
NC_000017.9:g.8075335dup	NCBI36
NG_032148.1:g.21804dup
NG_032148.2:g.21804dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2653dup	ENSP00000462607.2:p.Asp885GlyfsTer5
ENST00000581729.2:c.2653dup	ENSP00000462720.2:p.Asp885GlyfsTer5
ENST00000581967.2:n.3105dup
ENST00000583254.2:n.3702dup
ENST00000699849.1:c.1756dup	ENSP00000514647.1:p.Asp586GlyfsTer5
ENST00000699850.1:n.1916dup
ENST00000699851.1:n.2675dup
ENST00000699852.1:c.*1329dup	ENSP00000514648.1:n.*1329dup
ENST00000699853.1:c.2653dup	ENSP00000514649.1:p.Asp885GlyfsTer5
ENST00000699854.1:n.2446dup
ENST00000699855.1:n.3105dup
ENST00000699856.1:c.2653dup	ENSP00000514650.1:p.Asp885GlyfsTer5
ENST00000699857.1:n.2661dup
ENST00000699858.1:c.*1266dup	ENSP00000514651.1:n.*1266dup
ENST00000699859.1:c.2524dup	ENSP00000514652.1:p.Asp842GlyfsTer5
ENST00000699860.1:n.581+434dup
ENST00000699861.1:n.2675dup
ENST00000699862.1:n.3613dup
ENST00000449476.7:c.2548dup	ENSP00000396018.2:p.Asp850GlyfsTer5
ENST00000581671.2:n.2642dup
ENST00000643543.1:c.*1360dup	ENSP00000494323.1:n.*1360dup
ENST00000651323.1:c.2653dup MANE Select	ENSP00000498499.1:p.Asp885GlyfsTer5
ENST00000315684.12:c.2653dup	ENSP00000313759.8:p.Asp885GlyfsTer5
ENST00000449476.6:c.2548dup	ENSP00000396018.2:p.Asp850GlyfsTer5
ENST00000578240.1:n.881dup
ENST00000578441.5:n.154dup
ENST00000578537.1:c.371+434dup
NM_025099.5:c.2653dup	NP_079375.3:p.Asp885GlyfsTer5
NR_046431.1:n.2607dup
XM_006721577.2:c.2524dup	XP_006721640.1:p.Asp842GlyfsTer5
XM_006721578.2:c.2653dup	XP_006721641.1:p.Asp885GlyfsTer5
XM_006721579.2:c.2653dup	XP_006721642.1:p.Asp885GlyfsTer5
XM_011524010.1:c.2548dup	XP_011522312.1:p.Asp850GlyfsTer5
XM_011524011.1:c.1756dup	XP_011522313.1:p.Asp586GlyfsTer5
XR_429823.2:n.2696dup
XR_429824.2:n.2696dup
XR_429825.1:n.2518+434dup
NM_025099.6:c.2653dup MANE Select	NP_079375.3:p.Asp885GlyfsTer5
XM_006721577.3:c.2524dup	XP_006721640.1:p.Asp842GlyfsTer5
XM_006721578.3:c.2653dup	XP_006721641.1:p.Asp885GlyfsTer5
XM_011524010.2:c.2548dup	XP_011522312.1:p.Asp850GlyfsTer5
XM_011524011.2:c.1756dup	XP_011522313.1:p.Asp586GlyfsTer5
XR_001752639.1:n.2567dup
XR_001752640.1:n.2696dup
XR_001752641.1:n.2696dup
XR_001752642.1:n.2518+434dup
XR_001752643.1:n.3126dup
XR_002958073.1:n.2518+434dup
XR_429823.3:n.2696dup
XR_429824.3:n.2696dup
NR_046431.2:n.2568dup