Canonical Allele Identifier: CA2635985471

Gene: CTC1

Linked Data

• gnomAD v4: 17-8232195-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8232198del , CM000679.2:g.8232198del	GRCh38
NC_000017.10:g.8135516del , CM000679.1:g.8135516del	GRCh37
NC_000017.9:g.8076241del	NCBI36
NG_032148.1:g.20900del
NG_032148.2:g.20900del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2092del	ENSP00000462607.2:p.Leu698Ter
ENST00000581729.2:c.2092del	ENSP00000462720.2:p.Leu698Ter
ENST00000581967.2:n.2544del
ENST00000583254.2:n.2798del
ENST00000699849.1:c.1195del	ENSP00000514647.1:p.Leu399Ter
ENST00000699850.1:n.1355del
ENST00000699851.1:n.2114del
ENST00000699852.1:c.*768del	ENSP00000514648.1:n.*768del
ENST00000699853.1:c.2092del	ENSP00000514649.1:p.Leu698Ter
ENST00000699854.1:n.1885del
ENST00000699855.1:n.2544del
ENST00000699856.1:c.2092del	ENSP00000514650.1:p.Leu698Ter
ENST00000699857.1:n.2100del
ENST00000699858.1:c.*705del	ENSP00000514651.1:n.*705del
ENST00000699859.1:c.1963del	ENSP00000514652.1:p.Leu655Ter
ENST00000699860.1:n.198del
ENST00000699861.1:n.2114del
ENST00000699862.1:n.3052del
ENST00000449476.7:c.1987del	ENSP00000396018.2:p.Leu663Ter
ENST00000581671.2:n.2081del
ENST00000643543.1:c.*799del	ENSP00000494323.1:n.*799del
ENST00000651323.1:c.2092del MANE Select	ENSP00000498499.1:p.Leu698Ter
ENST00000315684.12:c.2092del	ENSP00000313759.8:p.Leu698Ter
ENST00000449476.6:c.1987del	ENSP00000396018.2:p.Leu663Ter
ENST00000578240.1:n.320del
NM_025099.5:c.2092del	NP_079375.3:p.Leu698Ter
NR_046431.1:n.2046del
XM_006721577.2:c.1963del	XP_006721640.1:p.Leu655Ter
XM_006721578.2:c.2092del	XP_006721641.1:p.Leu698Ter
XM_006721579.2:c.2092del	XP_006721642.1:p.Leu698Ter
XM_011524010.1:c.1987del	XP_011522312.1:p.Leu663Ter
XM_011524011.1:c.1195del	XP_011522313.1:p.Leu399Ter
XR_429823.2:n.2135del
XR_429824.2:n.2135del
XR_429825.1:n.2135del
NM_025099.6:c.2092del MANE Select	NP_079375.3:p.Leu698Ter
XM_006721577.3:c.1963del	XP_006721640.1:p.Leu655Ter
XM_006721578.3:c.2092del	XP_006721641.1:p.Leu698Ter
XM_011524010.2:c.1987del	XP_011522312.1:p.Leu663Ter
XM_011524011.2:c.1195del	XP_011522313.1:p.Leu399Ter
XR_001752639.1:n.2006del
XR_001752640.1:n.2135del
XR_001752641.1:n.2135del
XR_001752642.1:n.2135del
XR_001752643.1:n.2565del
XR_002958073.1:n.2135del
XR_429823.3:n.2135del
XR_429824.3:n.2135del
NR_046431.2:n.2007del