Canonical Allele Identifier: CA624731518

Gene: CTC1

Linked Data

• dbSNP Id: rs1385713814
• gnomAD v2: 17-8136190-AC-A
• gnomAD v3: 17-8232872-AC-A
• gnomAD v4: 17-8232872-AC-A
• MyVariant Identifiers: chr17:g.8136191del (hg19) ; chr17:g.8232873del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8232873del , CM000679.2:g.8232873del	GRCh38
NC_000017.10:g.8136191del , CM000679.1:g.8136191del	GRCh37
NC_000017.9:g.8076916del	NCBI36
NG_032148.1:g.20223del
NG_032148.2:g.20223del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.1945+33del	ENSP00000462607.2:n.1945+33del
ENST00000581729.2:c.1945+33del	ENSP00000462720.2:n.1945+33del
ENST00000581967.2:n.2000del
ENST00000583254.2:n.2254del
ENST00000699849.1:c.1048+33del	ENSP00000514647.1:n.1048+33del
ENST00000699850.1:n.1208+33del
ENST00000699851.1:n.1967+33del
ENST00000699852.1:c.*224del	ENSP00000514648.1:n.*224del
ENST00000699853.1:c.1945+33del	ENSP00000514649.1:n.1945+33del
ENST00000699854.1:n.1738+33del
ENST00000699855.1:n.2000del
ENST00000699856.1:c.1945+33del	ENSP00000514650.1:n.1945+33del
ENST00000699857.1:n.1953+33del
ENST00000699858.1:c.*558+33del	ENSP00000514651.1:n.*558+33del
ENST00000699859.1:c.1816+33del	ENSP00000514652.1:n.1816+33del
ENST00000699860.1:n.51+33del
ENST00000699861.1:n.1967+33del
ENST00000699862.1:n.2508del
ENST00000449476.7:c.1840+33del	ENSP00000396018.2:n.1840+33del
ENST00000581671.2:n.1934+33del
ENST00000643543.1:c.*652+33del	ENSP00000494323.1:n.*652+33del
ENST00000651323.1:c.1945+33del MANE Select	ENSP00000498499.1:n.1945+33del
ENST00000315684.12:c.1945+33del	ENSP00000313759.8:n.1945+33del
ENST00000449476.6:c.1840+33del	ENSP00000396018.2:n.1840+33del
ENST00000581967.1:n.381del
NM_025099.5:c.1945+33del	NP_079375.3:n.1945+33del
NR_046431.1:n.1899+33del
XM_006721577.2:c.1816+33del	XP_006721640.1:n.1816+33del
XM_006721578.2:c.1945+33del	XP_006721641.1:n.1945+33del
XM_006721579.2:c.1945+33del	XP_006721642.1:n.1945+33del
XM_011524010.1:c.1840+33del	XP_011522312.1:n.1840+33del
XM_011524011.1:c.1048+33del	XP_011522313.1:n.1048+33del
XR_429823.2:n.1988+33del
XR_429824.2:n.1988+33del
XR_429825.1:n.1988+33del
NM_025099.6:c.1945+33del MANE Select	NP_079375.3:n.1945+33del
XM_006721577.3:c.1816+33del	XP_006721640.1:n.1816+33del
XM_006721578.3:c.1945+33del	XP_006721641.1:n.1945+33del
XM_011524010.2:c.1840+33del	XP_011522312.1:n.1840+33del
XM_011524011.2:c.1048+33del	XP_011522313.1:n.1048+33del
XR_001752639.1:n.1859+33del
XR_001752640.1:n.1988+33del
XR_001752641.1:n.1988+33del
XR_001752642.1:n.1988+33del
XR_001752643.1:n.2021del
XR_001752644.1:n.2021del
XR_002958073.1:n.1988+33del
XR_429823.3:n.1988+33del
XR_429824.3:n.1988+33del
NR_046431.2:n.1860+33del