Canonical Allele Identifier: CA1139665204

Gene: CTC1

Linked Data

• ClinVar Variation Id: 944886
• ClinVar RCV Id: RCV001215384
• dbSNP Id: rs1987208048
• gnomAD v4: 17-8231371-CCAGTTGTCCTGGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8231376_8231388del , CM000679.2:g.8231376_8231388del	GRCh38
NC_000017.10:g.8134694_8134706del , CM000679.1:g.8134694_8134706del	GRCh37
NC_000017.9:g.8075419_8075431del	NCBI36
NG_032148.1:g.21712_21724del
NG_032148.2:g.21712_21724del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2561_2573del	ENSP00000462607.2:p.Val854GlyfsTer26
ENST00000581729.2:c.2561_2573del	ENSP00000462720.2:p.Val854GlyfsTer26
ENST00000581967.2:n.3013_3025del
ENST00000583254.2:n.3610_3622del
ENST00000699849.1:c.1664_1676del	ENSP00000514647.1:p.Val555GlyfsTer26
ENST00000699850.1:n.1824_1836del
ENST00000699851.1:n.2583_2595del
ENST00000699852.1:c.*1237_*1249del	ENSP00000514648.1:n.*1237_*1249del
ENST00000699853.1:c.2561_2573del	ENSP00000514649.1:p.Val854GlyfsTer26
ENST00000699854.1:n.2354_2366del
ENST00000699855.1:n.3013_3025del
ENST00000699856.1:c.2561_2573del	ENSP00000514650.1:p.Val854GlyfsTer26
ENST00000699857.1:n.2569_2581del
ENST00000699858.1:c.*1174_*1186del	ENSP00000514651.1:n.*1174_*1186del
ENST00000699859.1:c.2432_2444del	ENSP00000514652.1:p.Val811GlyfsTer26
ENST00000699860.1:n.581+342_581+354del
ENST00000699861.1:n.2583_2595del
ENST00000699862.1:n.3521_3533del
ENST00000449476.7:c.2456_2468del	ENSP00000396018.2:p.Val819GlyfsTer26
ENST00000581671.2:n.2550_2562del
ENST00000643543.1:c.*1268_*1280del	ENSP00000494323.1:n.*1268_*1280del
ENST00000651323.1:c.2561_2573del MANE Select	ENSP00000498499.1:p.Val854GlyfsTer26
ENST00000315684.12:c.2561_2573del	ENSP00000313759.8:p.Val854GlyfsTer26
ENST00000449476.6:c.2456_2468del	ENSP00000396018.2:p.Val819GlyfsTer26
ENST00000578240.1:n.789_801del
ENST00000578441.5:n.62_74del
ENST00000578537.1:c.371+342_371+354del
NM_025099.5:c.2561_2573del	NP_079375.3:p.Val854GlyfsTer26
NR_046431.1:n.2515_2527del
XM_006721577.2:c.2432_2444del	XP_006721640.1:p.Val811GlyfsTer26
XM_006721578.2:c.2561_2573del	XP_006721641.1:p.Val854GlyfsTer26
XM_006721579.2:c.2561_2573del	XP_006721642.1:p.Val854GlyfsTer26
XM_011524010.1:c.2456_2468del	XP_011522312.1:p.Val819GlyfsTer26
XM_011524011.1:c.1664_1676del	XP_011522313.1:p.Val555GlyfsTer26
XR_429823.2:n.2604_2616del
XR_429824.2:n.2604_2616del
XR_429825.1:n.2518+342_2518+354del
NM_025099.6:c.2561_2573del MANE Select	NP_079375.3:p.Val854GlyfsTer26
XM_006721577.3:c.2432_2444del	XP_006721640.1:p.Val811GlyfsTer26
XM_006721578.3:c.2561_2573del	XP_006721641.1:p.Val854GlyfsTer26
XM_011524010.2:c.2456_2468del	XP_011522312.1:p.Val819GlyfsTer26
XM_011524011.2:c.1664_1676del	XP_011522313.1:p.Val555GlyfsTer26
XR_001752639.1:n.2475_2487del
XR_001752640.1:n.2604_2616del
XR_001752641.1:n.2604_2616del
XR_001752642.1:n.2518+342_2518+354del
XR_001752643.1:n.3034_3046del
XR_002958073.1:n.2518+342_2518+354del
XR_429823.3:n.2604_2616del
XR_429824.3:n.2604_2616del
NR_046431.2:n.2476_2488del