Canonical Allele Identifier: CA2635984349

Gene: CTC1

Linked Data

• gnomAD v4: 17-8230963-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8230964_8230965del , CM000679.2:g.8230964_8230965del	GRCh38
NC_000017.10:g.8134282_8134283del , CM000679.1:g.8134282_8134283del	GRCh37
NC_000017.9:g.8075007_8075008del	NCBI36
NG_032148.1:g.22131_22132del
NG_032148.2:g.22131_22132del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2669+311_2670-313del	ENSP00000462607.2:n.2669+311_2670-313del
ENST00000581729.2:c.2669+311_2670-313del	ENSP00000462720.2:n.2669+311_2670-313del
ENST00000581967.2:n.3121+311_3122-313del
ENST00000583254.2:n.4029_4030del
ENST00000699849.1:c.1772+311_1773-313del	ENSP00000514647.1:n.1772+311_1773-313del
ENST00000699850.1:n.1932+311_1933-313del
ENST00000699851.1:n.2691+311_2692-313del
ENST00000699852.1:c.*1345+311_*1346-313del	ENSP00000514648.1:n.*1345+311_*1346-313del
ENST00000699853.1:c.2669+311_2670-313del	ENSP00000514649.1:n.2669+311_2670-313del
ENST00000699854.1:n.2462+311_2463-313del
ENST00000699855.1:n.3121+311_3122-313del
ENST00000699856.1:c.2669+311_2670-313del	ENSP00000514650.1:n.2669+311_2670-313del
ENST00000699857.1:n.2677+311_2678-313del
ENST00000699858.1:c.*1282+311_*1283-313del	ENSP00000514651.1:n.*1282+311_*1283-313del
ENST00000699859.1:c.2540+311_2541-313del	ENSP00000514652.1:n.2540+311_2541-313del
ENST00000699860.1:n.582-314_582-313del
ENST00000699861.1:n.2691+311_2692-313del
ENST00000699862.1:n.3629+311_3630-313del
ENST00000449476.7:c.2564+311_2565-313del	ENSP00000396018.2:n.2564+311_2565-313del
ENST00000581671.2:n.2658+311_2659-313del
ENST00000643543.1:c.*1376+311_*1377-313del	ENSP00000494323.1:n.*1376+311_*1377-313del
ENST00000651323.1:c.2669+311_2670-313del MANE Select	ENSP00000498499.1:n.2669+311_2670-313del
ENST00000315684.12:c.2669+311_2670-313del	ENSP00000313759.8:n.2669+311_2670-313del
ENST00000449476.6:c.2564+311_2565-313del	ENSP00000396018.2:n.2564+311_2565-313del
ENST00000578240.1:n.897+311_898-313del
ENST00000578441.5:n.170+311_171-313del
ENST00000578537.1:c.372-314_372-313del
NM_025099.5:c.2669+311_2670-313del	NP_079375.3:n.2669+311_2670-313del
NR_046431.1:n.2623+311_2624-313del
XM_006721577.2:c.2540+311_2541-313del	XP_006721640.1:n.2540+311_2541-313del
XM_006721578.2:c.2669+311_2670-313del	XP_006721641.1:n.2669+311_2670-313del
XM_006721579.2:c.2669+311_2670-313del	XP_006721642.1:n.2669+311_2670-313del
XM_011524010.1:c.2564+311_2565-313del	XP_011522312.1:n.2564+311_2565-313del
XM_011524011.1:c.1772+311_1773-313del	XP_011522313.1:n.1772+311_1773-313del
XR_429823.2:n.2712+311_2713-313del
XR_429824.2:n.2712+311_2713-313del
XR_429825.1:n.2519-314_2519-313del
NM_025099.6:c.2669+311_2670-313del MANE Select	NP_079375.3:n.2669+311_2670-313del
XM_006721577.3:c.2540+311_2541-313del	XP_006721640.1:n.2540+311_2541-313del
XM_006721578.3:c.2669+311_2670-313del	XP_006721641.1:n.2669+311_2670-313del
XM_011524010.2:c.2564+311_2565-313del	XP_011522312.1:n.2564+311_2565-313del
XM_011524011.2:c.1772+311_1773-313del	XP_011522313.1:n.1772+311_1773-313del
XR_001752639.1:n.2583+311_2584-313del
XR_001752640.1:n.2712+311_2713-313del
XR_001752641.1:n.2712+311_2713-313del
XR_001752642.1:n.2519-314_2519-313del
XR_001752643.1:n.3142+311_3143-313del
XR_002958073.1:n.2519-314_2519-313del
XR_429823.3:n.2712+311_2713-313del
XR_429824.3:n.2712+311_2713-313del
NR_046431.2:n.2584+311_2585-313del