Canonical Allele Identifier: CA8372226

Gene: CTC1

Linked Data

• dbSNP Id: rs751364712
• ExAC: 17:8136196 ATCT / A
• gnomAD v2: 17-8136196-ATCT-A
• gnomAD v4: 17-8232878-ATCT-A
• MyVariant Identifiers: chr17:g.8136197_8136199del (hg19) ; chr17:g.8232879_8232881del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8232883_8232885del , CM000679.2:g.8232883_8232885del	GRCh38
NC_000017.10:g.8136201_8136203del , CM000679.1:g.8136201_8136203del	GRCh37
NC_000017.9:g.8076926_8076928del	NCBI36
NG_032148.1:g.20215_20217del
NG_032148.2:g.20215_20217del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.1945+25_1945+27del	ENSP00000462607.2:n.1945+25_1945+27del
ENST00000581729.2:c.1945+25_1945+27del	ENSP00000462720.2:n.1945+25_1945+27del
ENST00000581967.2:n.1992_1994del
ENST00000583254.2:n.2246_2248del
ENST00000699849.1:c.1048+25_1048+27del	ENSP00000514647.1:n.1048+25_1048+27del
ENST00000699850.1:n.1208+25_1208+27del
ENST00000699851.1:n.1967+25_1967+27del
ENST00000699852.1:c.*216_*218del	ENSP00000514648.1:n.*216_*218del
ENST00000699853.1:c.1945+25_1945+27del	ENSP00000514649.1:n.1945+25_1945+27del
ENST00000699854.1:n.1738+25_1738+27del
ENST00000699855.1:n.1992_1994del
ENST00000699856.1:c.1945+25_1945+27del	ENSP00000514650.1:n.1945+25_1945+27del
ENST00000699857.1:n.1953+25_1953+27del
ENST00000699858.1:c.*558+25_*558+27del	ENSP00000514651.1:n.*558+25_*558+27del
ENST00000699859.1:c.1816+25_1816+27del	ENSP00000514652.1:n.1816+25_1816+27del
ENST00000699860.1:n.51+25_51+27del
ENST00000699861.1:n.1967+25_1967+27del
ENST00000699862.1:n.2500_2502del
ENST00000449476.7:c.1840+25_1840+27del	ENSP00000396018.2:n.1840+25_1840+27del
ENST00000581671.2:n.1934+25_1934+27del
ENST00000643543.1:c.*652+25_*652+27del	ENSP00000494323.1:n.*652+25_*652+27del
ENST00000651323.1:c.1945+25_1945+27del MANE Select	ENSP00000498499.1:n.1945+25_1945+27del
ENST00000315684.12:c.1945+25_1945+27del	ENSP00000313759.8:n.1945+25_1945+27del
ENST00000449476.6:c.1840+25_1840+27del	ENSP00000396018.2:n.1840+25_1840+27del
ENST00000581967.1:n.373_375del
NM_025099.5:c.1945+25_1945+27del	NP_079375.3:n.1945+25_1945+27del
NR_046431.1:n.1899+25_1899+27del
XM_006721577.2:c.1816+25_1816+27del	XP_006721640.1:n.1816+25_1816+27del
XM_006721578.2:c.1945+25_1945+27del	XP_006721641.1:n.1945+25_1945+27del
XM_006721579.2:c.1945+25_1945+27del	XP_006721642.1:n.1945+25_1945+27del
XM_011524010.1:c.1840+25_1840+27del	XP_011522312.1:n.1840+25_1840+27del
XM_011524011.1:c.1048+25_1048+27del	XP_011522313.1:n.1048+25_1048+27del
XR_429823.2:n.1988+25_1988+27del
XR_429824.2:n.1988+25_1988+27del
XR_429825.1:n.1988+25_1988+27del
NM_025099.6:c.1945+25_1945+27del MANE Select	NP_079375.3:n.1945+25_1945+27del
XM_006721577.3:c.1816+25_1816+27del	XP_006721640.1:n.1816+25_1816+27del
XM_006721578.3:c.1945+25_1945+27del	XP_006721641.1:n.1945+25_1945+27del
XM_011524010.2:c.1840+25_1840+27del	XP_011522312.1:n.1840+25_1840+27del
XM_011524011.2:c.1048+25_1048+27del	XP_011522313.1:n.1048+25_1048+27del
XR_001752639.1:n.1859+25_1859+27del
XR_001752640.1:n.1988+25_1988+27del
XR_001752641.1:n.1988+25_1988+27del
XR_001752642.1:n.1988+25_1988+27del
XR_001752643.1:n.2013_2015del
XR_001752644.1:n.2013_2015del
XR_002958073.1:n.1988+25_1988+27del
XR_429823.3:n.1988+25_1988+27del
XR_429824.3:n.1988+25_1988+27del
NR_046431.2:n.1860+25_1860+27del