Canonical Allele Identifier: CA287533772

Gene: CTC1

Linked Data

• dbSNP Id: rs774177917
• MyVariant Identifiers: chr17:g.8135449del (hg19) ; chr17:g.8232131del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8232133del , CM000679.2:g.8232133del	GRCh38
NC_000017.10:g.8135451del , CM000679.1:g.8135451del	GRCh37
NC_000017.9:g.8076176del	NCBI36
NG_032148.1:g.20965del
NG_032148.2:g.20965del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2157del	ENSP00000462607.2:p.Thr720ProfsTer8
ENST00000581729.2:c.2157del	ENSP00000462720.2:p.Thr720ProfsTer8
ENST00000581967.2:n.2609del
ENST00000583254.2:n.2863del
ENST00000699849.1:c.1260del	ENSP00000514647.1:p.Thr421ProfsTer8
ENST00000699850.1:n.1420del
ENST00000699851.1:n.2179del
ENST00000699852.1:c.*833del	ENSP00000514648.1:n.*833del
ENST00000699853.1:c.2157del	ENSP00000514649.1:p.Thr720ProfsTer8
ENST00000699854.1:n.1950del
ENST00000699855.1:n.2609del
ENST00000699856.1:c.2157del	ENSP00000514650.1:p.Thr720ProfsTer8
ENST00000699857.1:n.2165del
ENST00000699858.1:c.*770del	ENSP00000514651.1:n.*770del
ENST00000699859.1:c.2028del	ENSP00000514652.1:p.Thr677ProfsTer8
ENST00000699860.1:n.263del
ENST00000699861.1:n.2179del
ENST00000699862.1:n.3117del
ENST00000449476.7:c.2052del	ENSP00000396018.2:p.Thr685ProfsTer8
ENST00000581671.2:n.2146del
ENST00000643543.1:c.*864del	ENSP00000494323.1:n.*864del
ENST00000651323.1:c.2157del MANE Select	ENSP00000498499.1:p.Thr720ProfsTer8
ENST00000315684.12:c.2157del	ENSP00000313759.8:p.Thr720ProfsTer8
ENST00000449476.6:c.2052del	ENSP00000396018.2:p.Thr685ProfsTer8
ENST00000578240.1:n.385del
ENST00000578537.1:c.53del
NM_025099.5:c.2157del	NP_079375.3:p.Thr720ProfsTer8
NR_046431.1:n.2111del
XM_006721577.2:c.2028del	XP_006721640.1:p.Thr677ProfsTer8
XM_006721578.2:c.2157del	XP_006721641.1:p.Thr720ProfsTer8
XM_006721579.2:c.2157del	XP_006721642.1:p.Thr720ProfsTer8
XM_011524010.1:c.2052del	XP_011522312.1:p.Thr685ProfsTer8
XM_011524011.1:c.1260del	XP_011522313.1:p.Thr421ProfsTer8
XR_429823.2:n.2200del
XR_429824.2:n.2200del
XR_429825.1:n.2200del
NM_025099.6:c.2157del MANE Select	NP_079375.3:p.Thr720ProfsTer8
XM_006721577.3:c.2028del	XP_006721640.1:p.Thr677ProfsTer8
XM_006721578.3:c.2157del	XP_006721641.1:p.Thr720ProfsTer8
XM_011524010.2:c.2052del	XP_011522312.1:p.Thr685ProfsTer8
XM_011524011.2:c.1260del	XP_011522313.1:p.Thr421ProfsTer8
XR_001752639.1:n.2071del
XR_001752640.1:n.2200del
XR_001752641.1:n.2200del
XR_001752642.1:n.2200del
XR_001752643.1:n.2630del
XR_002958073.1:n.2200del
XR_429823.3:n.2200del
XR_429824.3:n.2200del
NR_046431.2:n.2072del