Canonical Allele Identifier: CA8372008

Gene: CTC1

Linked Data

• dbSNP Id: rs747654176
• ExAC: 17:8134548 AAGAG / A
• gnomAD v2: 17-8134548-AAGAG-A
• gnomAD v4: 17-8231230-AAGAG-A
• MyVariant Identifiers: chr17:g.8134549_8134552del (hg19) ; chr17:g.8231231_8231234del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8231235_8231238del , CM000679.2:g.8231235_8231238del	GRCh38
NC_000017.10:g.8134553_8134556del , CM000679.1:g.8134553_8134556del	GRCh37
NC_000017.9:g.8075278_8075281del	NCBI36
NG_032148.1:g.21862_21865del
NG_032148.2:g.21862_21865del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2669+42_2669+45del	ENSP00000462607.2:n.2669+42_2669+45del
ENST00000581729.2:c.2669+42_2669+45del	ENSP00000462720.2:n.2669+42_2669+45del
ENST00000581967.2:n.3121+42_3121+45del
ENST00000583254.2:n.3760_3763del
ENST00000699849.1:c.1772+42_1772+45del	ENSP00000514647.1:n.1772+42_1772+45del
ENST00000699850.1:n.1932+42_1932+45del
ENST00000699851.1:n.2691+42_2691+45del
ENST00000699852.1:c.*1345+42_*1345+45del	ENSP00000514648.1:n.*1345+42_*1345+45del
ENST00000699853.1:c.2669+42_2669+45del	ENSP00000514649.1:n.2669+42_2669+45del
ENST00000699854.1:n.2462+42_2462+45del
ENST00000699855.1:n.3121+42_3121+45del
ENST00000699856.1:c.2669+42_2669+45del	ENSP00000514650.1:n.2669+42_2669+45del
ENST00000699857.1:n.2677+42_2677+45del
ENST00000699858.1:c.*1282+42_*1282+45del	ENSP00000514651.1:n.*1282+42_*1282+45del
ENST00000699859.1:c.2540+42_2540+45del	ENSP00000514652.1:n.2540+42_2540+45del
ENST00000699860.1:n.581+492_581+495del
ENST00000699861.1:n.2691+42_2691+45del
ENST00000699862.1:n.3629+42_3629+45del
ENST00000449476.7:c.2564+42_2564+45del	ENSP00000396018.2:n.2564+42_2564+45del
ENST00000581671.2:n.2658+42_2658+45del
ENST00000643543.1:c.*1376+42_*1376+45del	ENSP00000494323.1:n.*1376+42_*1376+45del
ENST00000651323.1:c.2669+42_2669+45del MANE Select	ENSP00000498499.1:n.2669+42_2669+45del
ENST00000315684.12:c.2669+42_2669+45del	ENSP00000313759.8:n.2669+42_2669+45del
ENST00000449476.6:c.2564+42_2564+45del	ENSP00000396018.2:n.2564+42_2564+45del
ENST00000578240.1:n.897+42_897+45del
ENST00000578441.5:n.170+42_170+45del
ENST00000578537.1:c.371+492_371+495del
NM_025099.5:c.2669+42_2669+45del	NP_079375.3:n.2669+42_2669+45del
NR_046431.1:n.2623+42_2623+45del
XM_006721577.2:c.2540+42_2540+45del	XP_006721640.1:n.2540+42_2540+45del
XM_006721578.2:c.2669+42_2669+45del	XP_006721641.1:n.2669+42_2669+45del
XM_006721579.2:c.2669+42_2669+45del	XP_006721642.1:n.2669+42_2669+45del
XM_011524010.1:c.2564+42_2564+45del	XP_011522312.1:n.2564+42_2564+45del
XM_011524011.1:c.1772+42_1772+45del	XP_011522313.1:n.1772+42_1772+45del
XR_429823.2:n.2712+42_2712+45del
XR_429824.2:n.2712+42_2712+45del
XR_429825.1:n.2518+492_2518+495del
NM_025099.6:c.2669+42_2669+45del MANE Select	NP_079375.3:n.2669+42_2669+45del
XM_006721577.3:c.2540+42_2540+45del	XP_006721640.1:n.2540+42_2540+45del
XM_006721578.3:c.2669+42_2669+45del	XP_006721641.1:n.2669+42_2669+45del
XM_011524010.2:c.2564+42_2564+45del	XP_011522312.1:n.2564+42_2564+45del
XM_011524011.2:c.1772+42_1772+45del	XP_011522313.1:n.1772+42_1772+45del
XR_001752639.1:n.2583+42_2583+45del
XR_001752640.1:n.2712+42_2712+45del
XR_001752641.1:n.2712+42_2712+45del
XR_001752642.1:n.2518+492_2518+495del
XR_001752643.1:n.3142+42_3142+45del
XR_002958073.1:n.2518+492_2518+495del
XR_429823.3:n.2712+42_2712+45del
XR_429824.3:n.2712+42_2712+45del
NR_046431.2:n.2584+42_2584+45del