Canonical Allele Identifier: CA2246189155

Gene: CTC1

Linked Data

• dbSNP Id: rs1987216331
• gnomAD v4: 17-8231447-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8231449del , CM000679.2:g.8231449del	GRCh38
NC_000017.10:g.8134767del , CM000679.1:g.8134767del	GRCh37
NC_000017.9:g.8075492del	NCBI36
NG_032148.1:g.21648del
NG_032148.2:g.21648del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2497del	ENSP00000462607.2:p.Asp833MetfsTer?
ENST00000581729.2:c.2497del	ENSP00000462720.2:p.Asp833MetfsTer?
ENST00000581967.2:n.2949del
ENST00000583254.2:n.3546del
ENST00000699849.1:c.1600del	ENSP00000514647.1:p.Asp534MetfsTer?
ENST00000699850.1:n.1760del
ENST00000699851.1:n.2519del
ENST00000699852.1:c.*1173del	ENSP00000514648.1:n.*1173del
ENST00000699853.1:c.2497del	ENSP00000514649.1:p.Asp833MetfsTer?
ENST00000699854.1:n.2290del
ENST00000699855.1:n.2949del
ENST00000699856.1:c.2497del	ENSP00000514650.1:p.Asp833MetfsTer?
ENST00000699857.1:n.2505del
ENST00000699858.1:c.*1110del	ENSP00000514651.1:n.*1110del
ENST00000699859.1:c.2368del	ENSP00000514652.1:p.Asp790MetfsTer?
ENST00000699860.1:n.581+278del
ENST00000699861.1:n.2519del
ENST00000699862.1:n.3457del
ENST00000449476.7:c.2392del	ENSP00000396018.2:p.Asp798MetfsTer?
ENST00000581671.2:n.2486del
ENST00000643543.1:c.*1204del	ENSP00000494323.1:n.*1204del
ENST00000651323.1:c.2497del MANE Select	ENSP00000498499.1:p.Asp833MetfsTer?
ENST00000315684.12:c.2497del	ENSP00000313759.8:p.Asp833MetfsTer?
ENST00000449476.6:c.2392del	ENSP00000396018.2:p.Asp798MetfsTer?
ENST00000578240.1:n.725del
ENST00000578537.1:c.371+278del
NM_025099.5:c.2497del	NP_079375.3:p.Asp833MetfsTer?
NR_046431.1:n.2451del
XM_006721577.2:c.2368del	XP_006721640.1:p.Asp790MetfsTer?
XM_006721578.2:c.2497del	XP_006721641.1:p.Asp833MetfsTer?
XM_006721579.2:c.2497del	XP_006721642.1:p.Asp833MetfsTer?
XM_011524010.1:c.2392del	XP_011522312.1:p.Asp798MetfsTer?
XM_011524011.1:c.1600del	XP_011522313.1:p.Asp534MetfsTer?
XR_429823.2:n.2540del
XR_429824.2:n.2540del
XR_429825.1:n.2518+278del
NM_025099.6:c.2497del MANE Select	NP_079375.3:p.Asp833MetfsTer?
XM_006721577.3:c.2368del	XP_006721640.1:p.Asp790MetfsTer?
XM_006721578.3:c.2497del	XP_006721641.1:p.Asp833MetfsTer?
XM_011524010.2:c.2392del	XP_011522312.1:p.Asp798MetfsTer?
XM_011524011.2:c.1600del	XP_011522313.1:p.Asp534MetfsTer?
XR_001752639.1:n.2411del
XR_001752640.1:n.2540del
XR_001752641.1:n.2540del
XR_001752642.1:n.2518+278del
XR_001752643.1:n.2970del
XR_002958073.1:n.2518+278del
XR_429823.3:n.2540del
XR_429824.3:n.2540del
NR_046431.2:n.2412del