Canonical Allele Identifier: CA981243477

Gene: CTC1

Linked Data

• dbSNP Id: rs375104077
• gnomAD v3: 17-8231140-C-CAA
• gnomAD v4: 17-8231140-C-CAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8231148_8231149dup , CM000679.2:g.8231148_8231149dup	GRCh38
NC_000017.10:g.8134466_8134467dup , CM000679.1:g.8134466_8134467dup	GRCh37
NC_000017.9:g.8075191_8075192dup	NCBI36
NG_032148.1:g.21954_21955dup
NG_032148.2:g.21954_21955dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2669+134_2669+135dup	ENSP00000462607.2:n.2669+134_2669+135dup
ENST00000581729.2:c.2669+134_2669+135dup	ENSP00000462720.2:n.2669+134_2669+135dup
ENST00000581967.2:n.3121+134_3121+135dup
ENST00000583254.2:n.3852_3853dup
ENST00000699849.1:c.1772+134_1772+135dup	ENSP00000514647.1:n.1772+134_1772+135dup
ENST00000699850.1:n.1932+134_1932+135dup
ENST00000699851.1:n.2691+134_2691+135dup
ENST00000699852.1:c.*1345+134_*1345+135dup	ENSP00000514648.1:n.*1345+134_*1345+135dup
ENST00000699853.1:c.2669+134_2669+135dup	ENSP00000514649.1:n.2669+134_2669+135dup
ENST00000699854.1:n.2462+134_2462+135dup
ENST00000699855.1:n.3121+134_3121+135dup
ENST00000699856.1:c.2669+134_2669+135dup	ENSP00000514650.1:n.2669+134_2669+135dup
ENST00000699857.1:n.2677+134_2677+135dup
ENST00000699858.1:c.*1282+134_*1282+135dup	ENSP00000514651.1:n.*1282+134_*1282+135dup
ENST00000699859.1:c.2540+134_2540+135dup	ENSP00000514652.1:n.2540+134_2540+135dup
ENST00000699860.1:n.582-491_582-490dup
ENST00000699861.1:n.2691+134_2691+135dup
ENST00000699862.1:n.3629+134_3629+135dup
ENST00000449476.7:c.2564+134_2564+135dup	ENSP00000396018.2:n.2564+134_2564+135dup
ENST00000581671.2:n.2658+134_2658+135dup
ENST00000643543.1:c.*1376+134_*1376+135dup	ENSP00000494323.1:n.*1376+134_*1376+135dup
ENST00000651323.1:c.2669+134_2669+135dup MANE Select	ENSP00000498499.1:n.2669+134_2669+135dup
ENST00000315684.12:c.2669+134_2669+135dup	ENSP00000313759.8:n.2669+134_2669+135dup
ENST00000449476.6:c.2564+134_2564+135dup	ENSP00000396018.2:n.2564+134_2564+135dup
ENST00000578240.1:n.897+134_897+135dup
ENST00000578441.5:n.170+134_170+135dup
ENST00000578537.1:c.372-491_372-490dup
NM_025099.5:c.2669+134_2669+135dup	NP_079375.3:n.2669+134_2669+135dup
NR_046431.1:n.2623+134_2623+135dup
XM_006721577.2:c.2540+134_2540+135dup	XP_006721640.1:n.2540+134_2540+135dup
XM_006721578.2:c.2669+134_2669+135dup	XP_006721641.1:n.2669+134_2669+135dup
XM_006721579.2:c.2669+134_2669+135dup	XP_006721642.1:n.2669+134_2669+135dup
XM_011524010.1:c.2564+134_2564+135dup	XP_011522312.1:n.2564+134_2564+135dup
XM_011524011.1:c.1772+134_1772+135dup	XP_011522313.1:n.1772+134_1772+135dup
XR_429823.2:n.2712+134_2712+135dup
XR_429824.2:n.2712+134_2712+135dup
XR_429825.1:n.2519-491_2519-490dup
NM_025099.6:c.2669+134_2669+135dup MANE Select	NP_079375.3:n.2669+134_2669+135dup
XM_006721577.3:c.2540+134_2540+135dup	XP_006721640.1:n.2540+134_2540+135dup
XM_006721578.3:c.2669+134_2669+135dup	XP_006721641.1:n.2669+134_2669+135dup
XM_011524010.2:c.2564+134_2564+135dup	XP_011522312.1:n.2564+134_2564+135dup
XM_011524011.2:c.1772+134_1772+135dup	XP_011522313.1:n.1772+134_1772+135dup
XR_001752639.1:n.2583+134_2583+135dup
XR_001752640.1:n.2712+134_2712+135dup
XR_001752641.1:n.2712+134_2712+135dup
XR_001752642.1:n.2519-491_2519-490dup
XR_001752643.1:n.3142+134_3142+135dup
XR_002958073.1:n.2519-491_2519-490dup
XR_429823.3:n.2712+134_2712+135dup
XR_429824.3:n.2712+134_2712+135dup
NR_046431.2:n.2584+134_2584+135dup