Canonical Allele Identifier: CA624731389

Gene: CTC1

Linked Data

• dbSNP Id: rs1330485383
• gnomAD v2: 17-8134464-AAAAC-A
• gnomAD v3: 17-8231146-AAAAC-A
• gnomAD v4: 17-8231146-AAAAC-A
• MyVariant Identifiers: chr17:g.8134465_8134468del (hg19) ; chr17:g.8231147_8231150del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8231154_8231157del , CM000679.2:g.8231154_8231157del	GRCh38
NC_000017.10:g.8134472_8134475del , CM000679.1:g.8134472_8134475del	GRCh37
NC_000017.9:g.8075197_8075200del	NCBI36
NG_032148.1:g.21946_21949del
NG_032148.2:g.21946_21949del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2669+126_2669+129del	ENSP00000462607.2:n.2669+126_2669+129del
ENST00000581729.2:c.2669+126_2669+129del	ENSP00000462720.2:n.2669+126_2669+129del
ENST00000581967.2:n.3121+126_3121+129del
ENST00000583254.2:n.3844_3847del
ENST00000699849.1:c.1772+126_1772+129del	ENSP00000514647.1:n.1772+126_1772+129del
ENST00000699850.1:n.1932+126_1932+129del
ENST00000699851.1:n.2691+126_2691+129del
ENST00000699852.1:c.*1345+126_*1345+129del	ENSP00000514648.1:n.*1345+126_*1345+129del
ENST00000699853.1:c.2669+126_2669+129del	ENSP00000514649.1:n.2669+126_2669+129del
ENST00000699854.1:n.2462+126_2462+129del
ENST00000699855.1:n.3121+126_3121+129del
ENST00000699856.1:c.2669+126_2669+129del	ENSP00000514650.1:n.2669+126_2669+129del
ENST00000699857.1:n.2677+126_2677+129del
ENST00000699858.1:c.*1282+126_*1282+129del	ENSP00000514651.1:n.*1282+126_*1282+129del
ENST00000699859.1:c.2540+126_2540+129del	ENSP00000514652.1:n.2540+126_2540+129del
ENST00000699860.1:n.582-499_582-496del
ENST00000699861.1:n.2691+126_2691+129del
ENST00000699862.1:n.3629+126_3629+129del
ENST00000449476.7:c.2564+126_2564+129del	ENSP00000396018.2:n.2564+126_2564+129del
ENST00000581671.2:n.2658+126_2658+129del
ENST00000643543.1:c.*1376+126_*1376+129del	ENSP00000494323.1:n.*1376+126_*1376+129del
ENST00000651323.1:c.2669+126_2669+129del MANE Select	ENSP00000498499.1:n.2669+126_2669+129del
ENST00000315684.12:c.2669+126_2669+129del	ENSP00000313759.8:n.2669+126_2669+129del
ENST00000449476.6:c.2564+126_2564+129del	ENSP00000396018.2:n.2564+126_2564+129del
ENST00000578240.1:n.897+126_897+129del
ENST00000578441.5:n.170+126_170+129del
ENST00000578537.1:c.372-499_372-496del
NM_025099.5:c.2669+126_2669+129del	NP_079375.3:n.2669+126_2669+129del
NR_046431.1:n.2623+126_2623+129del
XM_006721577.2:c.2540+126_2540+129del	XP_006721640.1:n.2540+126_2540+129del
XM_006721578.2:c.2669+126_2669+129del	XP_006721641.1:n.2669+126_2669+129del
XM_006721579.2:c.2669+126_2669+129del	XP_006721642.1:n.2669+126_2669+129del
XM_011524010.1:c.2564+126_2564+129del	XP_011522312.1:n.2564+126_2564+129del
XM_011524011.1:c.1772+126_1772+129del	XP_011522313.1:n.1772+126_1772+129del
XR_429823.2:n.2712+126_2712+129del
XR_429824.2:n.2712+126_2712+129del
XR_429825.1:n.2519-499_2519-496del
NM_025099.6:c.2669+126_2669+129del MANE Select	NP_079375.3:n.2669+126_2669+129del
XM_006721577.3:c.2540+126_2540+129del	XP_006721640.1:n.2540+126_2540+129del
XM_006721578.3:c.2669+126_2669+129del	XP_006721641.1:n.2669+126_2669+129del
XM_011524010.2:c.2564+126_2564+129del	XP_011522312.1:n.2564+126_2564+129del
XM_011524011.2:c.1772+126_1772+129del	XP_011522313.1:n.1772+126_1772+129del
XR_001752639.1:n.2583+126_2583+129del
XR_001752640.1:n.2712+126_2712+129del
XR_001752641.1:n.2712+126_2712+129del
XR_001752642.1:n.2519-499_2519-496del
XR_001752643.1:n.3142+126_3142+129del
XR_002958073.1:n.2519-499_2519-496del
XR_429823.3:n.2712+126_2712+129del
XR_429824.3:n.2712+126_2712+129del
NR_046431.2:n.2584+126_2584+129del