Canonical Allele Identifier: CA8372071

Gene: CTC1

Linked Data

• dbSNP Id: rs777347776
• ExAC: 17:8135022 TATG / T
• gnomAD v2: 17-8135022-TATG-T
• gnomAD v4: 17-8231704-TATG-T
• MyVariant Identifiers: chr17:g.8135023_8135025del (hg19) ; chr17:g.8231705_8231707del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8231709_8231711del , CM000679.2:g.8231709_8231711del	GRCh38
NC_000017.10:g.8135027_8135029del , CM000679.1:g.8135027_8135029del	GRCh37
NC_000017.9:g.8075752_8075754del	NCBI36
NG_032148.1:g.21389_21391del
NG_032148.2:g.21389_21391del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2475+19_2475+21del	ENSP00000462607.2:n.2475+19_2475+21del
ENST00000581729.2:c.2475+19_2475+21del	ENSP00000462720.2:n.2475+19_2475+21del
ENST00000581967.2:n.2927+19_2927+21del
ENST00000583254.2:n.3287_3289del
ENST00000699849.1:c.1578+19_1578+21del	ENSP00000514647.1:n.1578+19_1578+21del
ENST00000699850.1:n.1738+19_1738+21del
ENST00000699851.1:n.2497+19_2497+21del
ENST00000699852.1:c.*1151+19_*1151+21del	ENSP00000514648.1:n.*1151+19_*1151+21del
ENST00000699853.1:c.2475+19_2475+21del	ENSP00000514649.1:n.2475+19_2475+21del
ENST00000699854.1:n.2268+19_2268+21del
ENST00000699855.1:n.2927+19_2927+21del
ENST00000699856.1:c.2475+19_2475+21del	ENSP00000514650.1:n.2475+19_2475+21del
ENST00000699857.1:n.2483+19_2483+21del
ENST00000699858.1:c.*1088+19_*1088+21del	ENSP00000514651.1:n.*1088+19_*1088+21del
ENST00000699859.1:c.2346+19_2346+21del	ENSP00000514652.1:n.2346+19_2346+21del
ENST00000699860.1:n.581+19_581+21del
ENST00000699861.1:n.2497+19_2497+21del
ENST00000699862.1:n.3435+19_3435+21del
ENST00000449476.7:c.2370+19_2370+21del	ENSP00000396018.2:n.2370+19_2370+21del
ENST00000581671.2:n.2464+19_2464+21del
ENST00000643543.1:c.*1182+19_*1182+21del	ENSP00000494323.1:n.*1182+19_*1182+21del
ENST00000651323.1:c.2475+19_2475+21del MANE Select	ENSP00000498499.1:n.2475+19_2475+21del
ENST00000315684.12:c.2475+19_2475+21del	ENSP00000313759.8:n.2475+19_2475+21del
ENST00000449476.6:c.2370+19_2370+21del	ENSP00000396018.2:n.2370+19_2370+21del
ENST00000578240.1:n.703+19_703+21del
ENST00000578537.1:c.371+19_371+21del
NM_025099.5:c.2475+19_2475+21del	NP_079375.3:n.2475+19_2475+21del
NR_046431.1:n.2429+19_2429+21del
XM_006721577.2:c.2346+19_2346+21del	XP_006721640.1:n.2346+19_2346+21del
XM_006721578.2:c.2475+19_2475+21del	XP_006721641.1:n.2475+19_2475+21del
XM_006721579.2:c.2475+19_2475+21del	XP_006721642.1:n.2475+19_2475+21del
XM_011524010.1:c.2370+19_2370+21del	XP_011522312.1:n.2370+19_2370+21del
XM_011524011.1:c.1578+19_1578+21del	XP_011522313.1:n.1578+19_1578+21del
XR_429823.2:n.2518+19_2518+21del
XR_429824.2:n.2518+19_2518+21del
XR_429825.1:n.2518+19_2518+21del
NM_025099.6:c.2475+19_2475+21del MANE Select	NP_079375.3:n.2475+19_2475+21del
XM_006721577.3:c.2346+19_2346+21del	XP_006721640.1:n.2346+19_2346+21del
XM_006721578.3:c.2475+19_2475+21del	XP_006721641.1:n.2475+19_2475+21del
XM_011524010.2:c.2370+19_2370+21del	XP_011522312.1:n.2370+19_2370+21del
XM_011524011.2:c.1578+19_1578+21del	XP_011522313.1:n.1578+19_1578+21del
XR_001752639.1:n.2389+19_2389+21del
XR_001752640.1:n.2518+19_2518+21del
XR_001752641.1:n.2518+19_2518+21del
XR_001752642.1:n.2518+19_2518+21del
XR_001752643.1:n.2948+19_2948+21del
XR_002958073.1:n.2518+19_2518+21del
XR_429823.3:n.2518+19_2518+21del
XR_429824.3:n.2518+19_2518+21del
NR_046431.2:n.2390+19_2390+21del